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:
552165
ClinVar RCV Id:
RCV000667384
dbSNP Id:
rs996798292
gnomAD v2:
17-78082592-C-CTGCA
gnomAD v3:
17-80108793-C-CTGCA
gnomAD v4:
17-80108793-C-CTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80108794_80108797dup , CM000679.2:g.80108794_80108797dup | GRCh38 |
| NC_000017.10:g.78082593_78082596dup , CM000679.1:g.78082593_78082596dup | GRCh37 |
| NC_000017.9:g.75697188_75697191dup | NCBI36 |
| NG_009822.1:g.12239_12242dup , LRG_673:g.12239_12242dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1292_1295dup | ENSP00000460543.2:p.Gln433AlafsTer? | |
| ENST00000572080.2:c.1292_1295dup | ENSP00000459972.2:p.Gln433AlafsTer? | |
| ENST00000577106.6:c.1292_1295dup | ENSP00000458306.2:p.Gln433AlafsTer? | |
| ENST00000302262.8:c.1292_1295dup MANE Select | ENSP00000305692.3:p.Gln433AlafsTer? | |
| ENST00000302262.7:c.1292_1295dup | ENSP00000305692.3:p.Gln433AlafsTer? | |
| ENST00000390015.7:c.1292_1295dup | ENSP00000374665.3:p.Gln433AlafsTer? | |
| NM_000152.3:c.1292_1295dup , LRG_673t1:c.1292_1295dup | NP_000143.2:p.Gln433AlafsTer? | |
| NM_001079803.1:c.1292_1295dup | NP_001073271.1:p.Gln433AlafsTer? | |
| NM_001079804.1:c.1292_1295dup | NP_001073272.1:p.Gln433AlafsTer? | |
| XM_005257193.1:c.1292_1295dup | XP_005257250.1:p.Gln433AlafsTer? | |
| XM_005257194.3:c.1292_1295dup | XP_005257251.1:p.Gln433AlafsTer? | |
| NM_000152.4:c.1292_1295dup | NP_000143.2:p.Gln433AlafsTer? | |
| NM_001079803.2:c.1292_1295dup | NP_001073271.1:p.Gln433AlafsTer? | |
| NM_001079804.2:c.1292_1295dup | NP_001073272.1:p.Gln433AlafsTer? | |
| XM_005257193.2:c.1292_1295dup | XP_005257250.1:p.Gln433AlafsTer? | |
| XM_005257194.4:c.1292_1295dup | XP_005257251.1:p.Gln433AlafsTer? | |
| NM_000152.5:c.1292_1295dup MANE Select | NP_000143.2:p.Gln433AlafsTer? | |
| NM_001079803.3:c.1292_1295dup | NP_001073271.1:p.Gln433AlafsTer? | |
| NM_001079804.3:c.1292_1295dup | NP_001073272.1:p.Gln433AlafsTer? |