SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
242100
dbSNP Id:
rs878855263
gnomAD v3:
14-95099805-G-GTGT
gnomAD v4:
14-95099805-G-GTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95099808_95099810dup , CM000676.2:g.95099808_95099810dup | GRCh38 |
| NC_000014.8:g.95566145_95566147dup , CM000676.1:g.95566145_95566147dup | GRCh37 |
| NC_000014.7:g.94635898_94635900dup | NCBI36 |
| NG_016311.1:g.62615_62617dup , LRG_492:g.62615_62617dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.4178_4180dup | ENSP00000433926.2:p.Asn1393_Thr1394insAsn | |
| ENST00000531162.7:c.4178_4180dup | ENSP00000433060.3:p.Asn1393_Thr1394insAsn | |
| ENST00000674628.2:c.4178_4180dup | ENSP00000502730.2:p.Asn1393_Thr1394insAsn | |
| ENST00000675540.2:c.*828_*830dup | ENSP00000501988.2:n.*828_*830dup | |
| ENST00000696733.1:c.4178_4180dup | ENSP00000512838.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696734.1:c.4178_4180dup | ENSP00000512839.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696735.1:n.1165_1167dup | ||
| ENST00000696736.1:c.4178_4180dup | ENSP00000512840.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696737.1:c.4178_4180dup | ENSP00000512841.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696920.1:n.4441_4443dup | ||
| ENST00000696921.1:n.5284_5286dup | ||
| ENST00000696922.1:n.4587_4589dup | ||
| ENST00000696923.1:c.4178_4180dup | ENSP00000512976.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696924.1:c.4178_4180dup | ENSP00000512977.1:p.Asn1393_Thr1394insAsn | |
| ENST00000696925.1:n.4587_4589dup | ||
| ENST00000343455.8:c.4178_4180dup MANE Select | ENSP00000343745.3:p.Asn1393_Thr1394insAsn | |
| ENST00000393063.6:c.4178_4180dup | ENSP00000376783.1:p.Asn1393_Thr1394insAsn | |
| ENST00000526495.6:c.4178_4180dup | ENSP00000437256.1:p.Asn1393_Thr1394insAsn | |
| ENST00000532939.3:c.4178_4180dup | ENSP00000452556.2:p.Asn1393_Thr1394insAsn | |
| ENST00000556045.6:c.4178_4180dup | ENSP00000451041.2:p.Asn1393_Thr1394insAsn | |
| ENST00000675540.1:c.1923_1925dup | ENSP00000501988.1:n.1923_1925dup | |
| ENST00000675995.1:c.*2494_*2496dup | ENSP00000502591.1:n.*2494_*2496dup | |
| ENST00000343455.7:c.4178_4180dup | ENSP00000343745.3:p.Asn1393_Thr1394insAsn | |
| ENST00000393063.5:c.4178_4180dup | ENSP00000376783.1:p.Asn1393_Thr1394insAsn | |
| ENST00000526495.5:c.4178_4180dup | ENSP00000437256.1:p.Asn1393_Thr1394insAsn | |
| ENST00000527414.5:c.4178_4180dup | ENSP00000435681.1:p.Asn1393_Thr1394insAsn | |
| ENST00000532939.2:c.213_215dup | ||
| ENST00000541352.5:c.4178_4180dup | ENSP00000444719.1:p.Asn1393_Thr1394insAsn | |
| ENST00000556045.5:c.872_874dup | ENSP00000451041.1:p.Asn291_Thr292insAsn | |
| NM_001195573.1:c.4178_4180dup | NP_001182502.1:p.Asn1393_Thr1394insAsn | |
| NM_001271282.2:c.4178_4180dup | NP_001258211.1:p.Asn1393_Thr1394insAsn | |
| NM_001291628.1:c.4178_4180dup | NP_001278557.1:p.Asn1393_Thr1394insAsn | |
| NM_030621.4:c.4178_4180dup | NP_085124.2:p.Asn1393_Thr1394insAsn | |
| NM_177438.2:c.4178_4180dup , LRG_492t1:c.4178_4180dup | NP_803187.1:p.Asn1393_Thr1394insAsn | |
| XM_011536599.1:c.4178_4180dup | XP_011534901.1:p.Asn1393_Thr1394insAsn | |
| XM_011536600.1:c.4178_4180dup | XP_011534902.1:p.Asn1393_Thr1394insAsn | |
| XM_011536601.1:c.4178_4180dup | XP_011534903.1:p.Asn1393_Thr1394insAsn | |
| XM_011536602.1:c.4178_4180dup | XP_011534904.1:p.Asn1393_Thr1394insAsn | |
| XM_011536603.1:c.4178_4180dup | XP_011534905.1:p.Asn1393_Thr1394insAsn | |
| XM_011536604.1:c.3773_3775dup | XP_011534906.1:p.Asn1258_Thr1259insAsn | |
| XM_011536605.1:c.2699_2701dup | XP_011534907.1:p.Asn900_Thr901insAsn | |
| XM_011536599.2:c.4178_4180dup | XP_011534901.1:p.Asn1393_Thr1394insAsn | |
| XM_011536600.3:c.4178_4180dup | XP_011534902.1:p.Asn1393_Thr1394insAsn | |
| XM_011536601.3:c.4178_4180dup | XP_011534903.1:p.Asn1393_Thr1394insAsn | |
| XM_011536602.3:c.4178_4180dup | XP_011534904.1:p.Asn1393_Thr1394insAsn | |
| XM_011536604.2:c.3773_3775dup | XP_011534906.1:p.Asn1258_Thr1259insAsn | |
| XM_011536605.2:c.2699_2701dup | XP_011534907.1:p.Asn900_Thr901insAsn | |
| XM_017021120.2:c.4178_4180dup | XP_016876609.1:p.Asn1393_Thr1394insAsn | |
| XM_017021121.2:c.4178_4180dup | XP_016876610.1:p.Asn1393_Thr1394insAsn | |
| XM_017021122.2:c.3773_3775dup | XP_016876611.1:p.Asn1258_Thr1259insAsn | |
| XM_017021123.2:c.3773_3775dup | XP_016876612.1:p.Asn1258_Thr1259insAsn | |
| NM_001271282.3:c.4178_4180dup | NP_001258211.1:p.Asn1393_Thr1394insAsn | |
| NM_001291628.2:c.4178_4180dup | NP_001278557.1:p.Asn1393_Thr1394insAsn | |
| NM_177438.3:c.4178_4180dup MANE Select | NP_803187.1:p.Asn1393_Thr1394insAsn | |
| NM_001395677.1:c.4178_4180dup | NP_001382606.1:p.Asn1393_Thr1394insAsn | |
| NM_001395678.1:c.4178_4180dup | NP_001382607.1:p.Asn1393_Thr1394insAsn | |
| NM_001395679.1:c.4178_4180dup | NP_001382608.1:p.Asn1393_Thr1394insAsn | |
| NM_001395680.1:c.4178_4180dup | NP_001382609.1:p.Asn1393_Thr1394insAsn | |
| NM_001395682.1:c.4178_4180dup | NP_001382611.1:p.Asn1393_Thr1394insAsn | |
| NM_001395683.1:c.4178_4180dup | NP_001382612.1:p.Asn1393_Thr1394insAsn | |
| NM_001395684.1:c.4178_4180dup | NP_001382613.1:p.Asn1393_Thr1394insAsn | |
| NM_001395685.1:c.4178_4180dup | NP_001382614.1:p.Asn1393_Thr1394insAsn | |
| NM_001395686.1:c.3896_3898dup | NP_001382615.1:p.Asn1299_Thr1300insAsn | |
| NM_001395687.1:c.3773_3775dup | NP_001382616.1:p.Asn1258_Thr1259insAsn | |
| NM_001395688.1:c.3773_3775dup | NP_001382617.1:p.Asn1258_Thr1259insAsn | |
| NM_001395689.1:c.3773_3775dup | NP_001382618.1:p.Asn1258_Thr1259insAsn | |
| NM_001395690.1:c.3773_3775dup | NP_001382619.1:p.Asn1258_Thr1259insAsn | |
| NM_001395691.1:c.3611_3613dup | NP_001382620.1:p.Asn1204_Thr1205insAsn | |
| NM_001395692.1:c.4178_4180dup | NP_001382621.1:p.Asn1393_Thr1394insAsn | |
| NM_001395693.1:c.4178_4180dup | NP_001382622.1:p.Asn1393_Thr1394insAsn | |
| NM_001395694.1:c.4178_4180dup | NP_001382623.1:p.Asn1393_Thr1394insAsn | |
| NM_001395695.1:c.4178_4180dup | NP_001382624.1:p.Asn1393_Thr1394insAsn | |
| NM_001395696.1:c.3773_3775dup | NP_001382625.1:p.Asn1258_Thr1259insAsn | |
| NM_001395697.1:c.2495_2497dup | NP_001382626.1:p.Asn832_Thr833insAsn | |
| NR_172715.1:n.4596_4598dup | ||
| NR_172716.1:n.4780_4782dup | ||
| NR_172717.1:n.4690_4692dup | ||
| NR_172718.1:n.4613_4615dup | ||
| NR_172719.1:n.4446_4448dup | ||
| NR_172720.1:n.4523_4525dup |