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
dbSNP Id:
rs1171693301
gnomAD v2:
1-11307819-G-GGGGAAAAGTGAGGTGTGGAGCTT
gnomAD v3:
1-11247762-G-GGGGAAAAGTGAGGTGTGGAGCTT
gnomAD v4:
1-11247762-G-GGGGAAAAGTGAGGTGTGGAGCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11247763_11247785dup , CM000663.2:g.11247763_11247785dup | GRCh38 |
| NC_000001.10:g.11307820_11307842dup , CM000663.1:g.11307820_11307842dup | GRCh37 |
| NC_000001.9:g.11230407_11230429dup | NCBI36 |
| NG_033239.1:g.19767_19789dup , LRG_734:g.19767_19789dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.1116+34_1117-30dup | ENSP00000515181.1:n.1116+34_1117-30dup | |
| ENST00000703132.1:n.1097+34_1097+56dup | ||
| ENST00000703140.1:c.1116+34_1117-30dup | ENSP00000515197.1:n.1116+34_1117-30dup | |
| ENST00000703141.1:c.1116+34_1117-30dup | ENSP00000515198.1:n.1116+34_1117-30dup | |
| ENST00000703142.1:c.1116+34_1117-30dup | ENSP00000515199.1:n.1116+34_1117-30dup | |
| ENST00000703143.1:c.1116+34_1117-30dup | ENSP00000515200.1:n.1116+34_1117-30dup | |
| ENST00000703144.1:n.86+34_87-30dup | ||
| ENST00000361445.9:c.1116+34_1117-30dup MANE Select | ENSP00000354558.4:n.1116+34_1117-30dup | |
| ENST00000361445.8:c.1116+34_1117-30dup | ENSP00000354558.4:n.1116+34_1117-30dup | |
| NM_004958.3:c.1116+34_1117-30dup , LRG_734t1:c.1116+34_1117-30dup | NP_004949.1:n.1116+34_1117-30dup | |
| XM_005263438.1:c.1116+34_1117-30dup | XP_005263495.1:n.1116+34_1117-30dup | |
| XM_011541166.1:c.1116+34_1117-30dup | XP_011539468.1:n.1116+34_1117-30dup | |
| XR_244786.1:n.1237+34_1238-30dup | ||
| XM_005263438.2:c.1116+34_1117-30dup | XP_005263495.1:n.1116+34_1117-30dup | |
| XM_011541166.2:c.1116+34_1117-30dup | XP_011539468.1:n.1116+34_1117-30dup | |
| XM_017000900.1:c.435+34_436-30dup | XP_016856389.1:n.435+34_436-30dup | |
| XM_017000901.1:c.-24+34_-24+56dup | XP_016856390.1:n.-24+34_-24+56dup | |
| XM_017000902.1:c.1116+34_1117-30dup | XP_016856391.1:n.1116+34_1117-30dup | |
| XM_024446187.1:c.1116+34_1117-30dup | XP_024301955.1:n.1116+34_1117-30dup | |
| XR_001737087.1:n.1237+34_1238-30dup | ||
| NM_004958.4:c.1116+34_1117-30dup MANE Select | NP_004949.1:n.1116+34_1117-30dup | |
| NM_001386500.1:c.1116+34_1117-30dup | NP_001373429.1:n.1116+34_1117-30dup | |
| NM_001386501.1:c.-24+34_-24+56dup | NP_001373430.1:n.-24+34_-24+56dup |