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:
143621
ClinVar RCV Id:
RCV000133161
dbSNP Id:
rs61749708
PubMed:
PMID:11269512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031265del , CM000685.2:g.154031265del | GRCh38 |
| NC_000023.10:g.153296716del , CM000685.1:g.153296716del | GRCh37 |
| NC_000023.9:g.152949910del | NCBI36 |
| NG_007107.2:g.110866del | |
| NG_007107.3:g.110842del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.566del MANE Plus Clinical | ENSP00000301948.6:p.Gly189AspfsTer21 | |
| ENST00000453960.7:c.602del MANE Select | ENSP00000395535.2:p.Gly201AspfsTer21 | |
| ENST00000637917.1:c.65+134del | ||
| ENST00000303391.10:c.566del | ENSP00000301948.6:p.Gly189AspfsTer21 | |
| ENST00000407218.5:c.493del | ENSP00000384865.2:p.Asp165ThrfsTer? | |
| ENST00000453960.6:c.602del | ENSP00000395535.2:p.Gly201AspfsTer21 | |
| ENST00000619732.4:c.566del | ENSP00000480973.1:p.Gly189AspfsTer21 | |
| ENST00000622433.4:c.554del | ENSP00000484470.1:p.Gly185AspfsTer21 | |
| ENST00000628176.2:c.457del | ENSP00000486978.1:p.Asp153ThrfsTer? | |
| NM_001110792.1:c.602del | NP_001104262.1:p.Gly201AspfsTer21 | |
| NM_001316337.1:c.287del | NP_001303266.1:p.Gly96AspfsTer21 | |
| NM_004992.3:c.566del | NP_004983.1:p.Gly189AspfsTer21 | |
| XM_005274681.3:c.566del | XP_005274738.1:p.Gly189AspfsTer21 | |
| XM_005274682.3:c.287del | XP_005274739.1:p.Gly96AspfsTer21 | |
| XM_005274683.3:c.287del | XP_005274740.1:p.Gly96AspfsTer21 | |
| XM_006724819.2:c.-104del | XP_006724882.1:n.-104del | |
| XM_011531166.1:c.287del | XP_011529468.1:p.Gly96AspfsTer21 | |
| XM_006724819.3:c.-104del | XP_006724882.1:n.-104del | |
| XM_011531166.2:c.287del | XP_011529468.1:p.Gly96AspfsTer21 | |
| XM_024452383.1:c.287del | XP_024308151.1:p.Gly96AspfsTer21 | |
| XM_024452384.1:c.287del | XP_024308152.1:p.Gly96AspfsTer21 | |
| NM_001110792.2:c.602del MANE Select | NP_001104262.1:p.Gly201AspfsTer21 | |
| NM_001316337.2:c.287del | NP_001303266.1:p.Gly96AspfsTer21 | |
| NM_001369391.2:c.287del | NP_001356320.1:p.Gly96AspfsTer21 | |
| NM_001369392.2:c.287del | NP_001356321.1:p.Gly96AspfsTer21 | |
| NM_001369393.2:c.287del | NP_001356322.1:p.Gly96AspfsTer21 | |
| NM_001369394.1:c.287del | NP_001356323.1:p.Gly96AspfsTer21 | |
| NM_001369394.2:c.287del | NP_001356323.1:p.Gly96AspfsTer21 | |
| NM_001386137.1:c.-104del | NP_001373066.1:n.-104del | |
| NM_001386138.1:c.-104del | NP_001373067.1:n.-104del | |
| NM_001386139.1:c.-104del | NP_001373068.1:n.-104del | |
| NM_004992.4:c.566del MANE Plus Clinical | NP_004983.1:p.Gly189AspfsTer21 |