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
dbSNP Id:
rs1916081545
gnomAD v3:
17-4734187-C-CAGAGCGAGACTCCGTCTCAAAACAA
gnomAD v4:
17-4734187-C-CAGAGCGAGACTCCGTCTCAAAACAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734190_4734214dup , CM000679.2:g.4734190_4734214dup | GRCh38 |
| NC_000017.10:g.4637485_4637509dup , CM000679.1:g.4637485_4637509dup | GRCh37 |
| NC_000017.9:g.4584234_4584258dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*291_*315dup MANE Select | ENSP00000293778.7:n.*291_*315dup | |
| ENST00000293778.10:c.*291_*315dup | ENSP00000293778.6:n.*291_*315dup | |
| ENST00000576153.5:n.847_871dup | ||
| NM_022059.3:c.*291_*315dup | NP_071342.2:n.*291_*315dup | |
| NM_022059.4:c.*291_*315dup | NP_071342.2:n.*291_*315dup | |
| NM_001386809.1:c.*291_*315dup MANE Select | NP_001373738.1:n.*291_*315dup |