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:
2148307
ClinVar RCV Id:
RCV003063329
dbSNP Id:
rs370351651
ExAC:
10:112724833 G / GATT
gnomAD v2:
10-112724833-G-GATT
gnomAD v4:
10-110965075-G-GATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110965085_110965087dup , CM000672.2:g.110965085_110965087dup | GRCh38 |
| NC_000010.10:g.112724843_112724845dup , CM000672.1:g.112724843_112724845dup | GRCh37 |
| NC_000010.9:g.112714833_112714835dup | NCBI36 |
| NG_028922.1:g.50543_50545dup , LRG_753:g.50543_50545dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.703+24_703+26dup | ENSP00000265277.5:n.703+24_703+26dup | |
| ENST00000451838.2:c.-242-35330_-242-35328dup | ENSP00000408275.2:n.-242-35330_-242-35328dup | |
| ENST00000480155.2:n.939+24_939+26dup | ||
| ENST00000685059.1:c.703+24_703+26dup | ENSP00000510210.1:n.703+24_703+26dup | |
| ENST00000685613.1:c.703+24_703+26dup | ENSP00000510564.1:n.703+24_703+26dup | |
| ENST00000687592.1:n.1002+24_1002+26dup | ||
| ENST00000688928.1:c.703+24_703+26dup | ENSP00000509273.1:n.703+24_703+26dup | |
| ENST00000689118.1:c.703+24_703+26dup | ENSP00000510554.1:n.703+24_703+26dup | |
| ENST00000689300.1:c.703+24_703+26dup | ENSP00000510639.1:n.703+24_703+26dup | |
| ENST00000689997.1:c.-380-20543_-380-20541dup | ENSP00000510700.1:n.-380-20543_-380-20541dup | |
| ENST00000691151.1:n.1019_1021dup | ||
| ENST00000691369.1:c.703+24_703+26dup | ENSP00000509754.1:n.703+24_703+26dup | |
| ENST00000691441.1:c.703+24_703+26dup | ENSP00000509686.1:n.703+24_703+26dup | |
| ENST00000691903.1:c.703+24_703+26dup | ENSP00000510314.1:n.703+24_703+26dup | |
| ENST00000692776.1:c.703+24_703+26dup | ENSP00000508524.1:n.703+24_703+26dup | |
| ENST00000369452.9:c.703+24_703+26dup MANE Select | ENSP00000358464.5:n.703+24_703+26dup | |
| ENST00000265277.9:c.703+24_703+26dup | ENSP00000265277.5:n.703+24_703+26dup | |
| ENST00000369452.8:c.703+24_703+26dup | ENSP00000358464.4:n.703+24_703+26dup | |
| ENST00000451838.1:c.211+24_211+26dup | ENSP00000408275.1:n.211+24_211+26dup | |
| ENST00000489390.1:n.56-35330_56-35328dup | ||
| ENST00000497305.1:n.30+24_30+26dup | ||
| NM_001269039.1:c.703+24_703+26dup | NP_001255968.1:n.703+24_703+26dup | |
| NM_007373.3:c.703+24_703+26dup , LRG_753t1:c.703+24_703+26dup | NP_031399.2:n.703+24_703+26dup | |
| XM_011540216.1:c.-380-20543_-380-20541dup | XP_011538518.1:n.-380-20543_-380-20541dup | |
| NM_001269039.2:c.703+24_703+26dup | NP_001255968.1:n.703+24_703+26dup | |
| NM_001324336.1:c.703+24_703+26dup | NP_001311265.1:n.703+24_703+26dup | |
| NM_001324337.1:c.703+24_703+26dup | NP_001311266.1:n.703+24_703+26dup | |
| NR_136749.1:n.116-20543_116-20541dup | ||
| NM_007373.4:c.703+24_703+26dup MANE Select | NP_031399.2:n.703+24_703+26dup | |
| NM_001269039.3:c.703+24_703+26dup | NP_001255968.1:n.703+24_703+26dup | |
| NM_001324336.2:c.703+24_703+26dup | NP_001311265.1:n.703+24_703+26dup | |
| NM_001324337.2:c.703+24_703+26dup | NP_001311266.1:n.703+24_703+26dup | |
| NR_136749.2:n.55-20543_55-20541dup |