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:
251608
ClinVar RCV Id:
RCV000237484
dbSNP Id:
rs879254762
gnomAD v2:
19-11221420-C-CA
gnomAD v4:
19-11110744-C-CA
MyVariant Identifiers:
chr19:g.11221421dupA (hg19)
chr19:g.11221420_11221421insA (hg19)
chr19:g.11110745dupA (hg38)
chr19:g.11110744_11110745insA (hg38)
PubMed:
PMID:21722902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110745dup , CM000681.2:g.11110745dup | GRCh38 |
| NC_000019.9:g.11221421dup , CM000681.1:g.11221421dup | GRCh37 |
| NC_000019.8:g.11082421dup | NCBI36 |
| NG_009060.1:g.26365dup , LRG_274:g.26365dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1292dup | ENSP00000252444.6:p.Leu432AlafsTer12 | |
| ENST00000559340.2:c.1034dup | ENSP00000453696.2:p.Leu346AlafsTer12 | |
| ENST00000560467.2:c.941-769dup | ENSP00000453513.2:n.941-769dup | |
| ENST00000558518.6:c.1034dup MANE Select | ENSP00000454071.1:p.Leu346AlafsTer12 | |
| ENST00000252444.9:c.1288dup | ||
| ENST00000455727.6:c.530dup | ENSP00000397829.2:p.Leu178AlafsTer12 | |
| ENST00000535915.5:c.911dup | ENSP00000440520.1:p.Leu305AlafsTer12 | |
| ENST00000545707.5:c.653dup | ENSP00000437639.1:p.Leu219AlafsTer12 | |
| ENST00000557933.5:c.1034dup | ENSP00000453557.1:p.Leu346AlafsTer12 | |
| ENST00000558013.5:c.1034dup | ENSP00000453346.1:p.Leu346AlafsTer12 | |
| ENST00000558518.5:c.1034dup | ENSP00000454071.1:p.Leu346AlafsTer12 | |
| ENST00000560173.1:n.33dup | ||
| ENST00000560467.1:c.541-769dup | ||
| NM_000527.4:c.1034dup , LRG_274t1:c.1034dup | NP_000518.1:p.Leu346AlafsTer12 | |
| NM_001195798.1:c.1034dup | NP_001182727.1:p.Leu346AlafsTer12 | |
| NM_001195799.1:c.911dup | NP_001182728.1:p.Leu305AlafsTer12 | |
| NM_001195800.1:c.530dup | NP_001182729.1:p.Leu178AlafsTer12 | |
| NM_001195803.1:c.653dup | NP_001182732.1:p.Leu219AlafsTer12 | |
| XM_011528010.1:c.1034dup | XP_011526312.1:p.Leu346AlafsTer12 | |
| XM_011528011.1:c.653dup | XP_011526313.1:p.Leu219AlafsTer12 | |
| XR_244074.2:n.1184dup | ||
| XM_011528010.2:c.1034dup | XP_011526312.1:p.Leu346AlafsTer12 | |
| XR_001753685.2:n.1151dup | ||
| XR_001753686.2:n.1151dup | ||
| NM_000527.5:c.1034dup MANE Select | NP_000518.1:p.Leu346AlafsTer12 | |
| NM_001195798.2:c.1034dup | NP_001182727.1:p.Leu346AlafsTer12 | |
| NM_001195799.2:c.911dup | NP_001182728.1:p.Leu305AlafsTer12 | |
| NM_001195800.2:c.530dup | NP_001182729.1:p.Leu178AlafsTer12 | |
| NM_001195803.2:c.653dup | NP_001182732.1:p.Leu219AlafsTer12 |