SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
37502
dbSNP Id:
rs397507208
ExAC:
17:41244509 TTC / T
gnomAD v2:
17-41244509-TTC-T
gnomAD v4:
17-43092492-TTC-T
PubMed:
PMID:26295337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092496_43092497del , CM000679.2:g.43092496_43092497del | GRCh38 |
| NC_000017.10:g.41244513_41244514del , CM000679.1:g.41244513_41244514del | GRCh37 |
| NC_000017.9:g.38498039_38498040del | NCBI36 |
| NG_005905.2:g.125490_125491del , LRG_292:g.125490_125491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3101_3102del | ||
| ENST00000461574.2:c.3037_3038del | ENSP00000417241.2:p.Glu1013AsnfsTer4 | |
| ENST00000470026.6:c.3037_3038del | ENSP00000419274.2:p.Glu1013AsnfsTer4 | |
| ENST00000473961.6:c.2911_2912del | ENSP00000420201.2:p.Glu971AsnfsTer4 | |
| ENST00000476777.6:c.3034_3035del | ENSP00000417554.2:p.Glu1012AsnfsTer4 | |
| ENST00000477152.6:c.2959_2960del | ENSP00000419988.2:p.Glu987AsnfsTer4 | |
| ENST00000478531.6:c.785-1462_785-1461del | ENSP00000420412.2:n.785-1462_785-1461del | |
| ENST00000489037.2:c.2959_2960del | ENSP00000420781.2:p.Glu987AsnfsTer4 | |
| ENST00000493919.6:c.647-1462_647-1461del | ENSP00000418819.2:n.647-1462_647-1461del | |
| ENST00000494123.6:c.3037_3038del | ENSP00000419103.2:p.Glu1013AsnfsTer4 | |
| ENST00000497488.2:c.2149_2150del | ENSP00000418986.2:p.Glu717AsnfsTer4 | |
| ENST00000618469.2:c.3037_3038del | ENSP00000478114.2:p.Glu1013AsnfsTer4 | |
| ENST00000634433.2:c.2914_2915del | ENSP00000489431.2:p.Glu972AsnfsTer4 | |
| ENST00000644379.2:c.3037_3038del | ENSP00000496570.2:p.Glu1013AsnfsTer4 | |
| ENST00000644555.2:c.647-1462_647-1461del | ENSP00000494614.2:n.647-1462_647-1461del | |
| ENST00000652672.2:c.2896_2897del | ENSP00000498906.2:p.Glu966AsnfsTer4 | |
| ENST00000484087.6:c.665-1462_665-1461del | ENSP00000419481.2:n.665-1462_665-1461del | |
| ENST00000700182.1:c.707-1462_707-1461del | ENSP00000514849.1:n.707-1462_707-1461del | |
| ENST00000357654.9:c.3037_3038del MANE Select | ENSP00000350283.3:p.Glu1013AsnfsTer4 | |
| ENST00000471181.7:c.3037_3038del | ENSP00000418960.2:p.Glu1013AsnfsTer4 | |
| ENST00000352993.7:c.671-1462_671-1461del | ENSP00000312236.5:n.671-1462_671-1461del | |
| ENST00000354071.7:c.3037_3038del | ENSP00000326002.7:p.Glu1013AsnfsTer4 | |
| ENST00000357654.7:c.3037_3038del | ENSP00000350283.3:p.Glu1013AsnfsTer4 | |
| ENST00000461221.5:c.*2820_*2821del | ENSP00000418548.1:n.*2820_*2821del | |
| ENST00000468300.5:c.788-1462_788-1461del | ENSP00000417148.1:n.788-1462_788-1461del | |
| ENST00000471181.6:c.3037_3038del | ENSP00000418960.2:p.Glu1013AsnfsTer4 | |
| ENST00000478531.5:c.785-1462_785-1461del | ENSP00000420412.1:n.785-1462_785-1461del | |
| ENST00000484087.5:c.410-1462_410-1461del | ENSP00000419481.1:n.410-1462_410-1461del | |
| ENST00000487825.5:c.413-1462_413-1461del | ENSP00000418212.1:n.413-1462_413-1461del | |
| ENST00000491747.6:c.788-1462_788-1461del | ENSP00000420705.2:n.788-1462_788-1461del | |
| ENST00000493795.5:c.2896_2897del | ENSP00000418775.1:p.Glu966AsnfsTer4 | |
| ENST00000493919.5:c.647-1462_647-1461del | ENSP00000418819.1:n.647-1462_647-1461del | |
| ENST00000586385.5:c.5-28543_5-28542del | ENSP00000465818.1:n.5-28543_5-28542del | |
| ENST00000591534.5:c.-43-17973_-43-17972del | ENSP00000467329.1:n.-43-17973_-43-17972del | |
| ENST00000591849.5:c.-99+32777_-99+32778del | ENSP00000465347.1:n.-99+32777_-99+32778del | |
| NM_007294.3:c.3037_3038del , LRG_292t1:c.3037_3038del | NP_009225.1:p.Glu1013AsnfsTer4 | |
| NM_007297.3:c.2896_2897del | NP_009228.2:p.Glu966AsnfsTer4 | |
| NM_007298.3:c.788-1462_788-1461del | NP_009229.2:n.788-1462_788-1461del | |
| NM_007299.3:c.788-1462_788-1461del | NP_009230.2:n.788-1462_788-1461del | |
| NM_007300.3:c.3037_3038del | NP_009231.2:p.Glu1013AsnfsTer4 | |
| NR_027676.1:n.3173_3174del | ||
| NM_007294.4:c.3037_3038del MANE Select | NP_009225.1:p.Glu1013AsnfsTer4 | |
| NM_007297.4:c.2896_2897del | NP_009228.2:p.Glu966AsnfsTer4 | |
| NM_007299.4:c.788-1462_788-1461del | NP_009230.2:n.788-1462_788-1461del | |
| NM_007300.4:c.3037_3038del | NP_009231.2:p.Glu1013AsnfsTer4 | |
| NR_027676.2:n.3214_3215del |