Linked Data
ClinVar Variation Id:
252023
ClinVar RCV Id:
RCV000237867
dbSNP Id:
rs879255015
PubMed:
PMID:16389549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116919_11116920del , CM000681.2:g.11116919_11116920del | GRCh38 |
| NC_000019.9:g.11227595_11227596del , CM000681.1:g.11227595_11227596del | GRCh37 |
| NC_000019.8:g.11088595_11088596del | NCBI36 |
| NG_009060.1:g.32539_32540del , LRG_274:g.32539_32540del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2024_2025del | ENSP00000252444.6:p.Asp675GlyfsTer13 | |
| ENST00000559340.2:c.1705+707_1705+708del | ENSP00000453696.2:n.1705+707_1705+708del | |
| ENST00000560467.2:c.1646_1647del | ENSP00000453513.2:p.Asp549GlyfsTer13 | |
| ENST00000558518.6:c.1766_1767del MANE Select | ENSP00000454071.1:p.Asp589GlyfsTer13 | |
| ENST00000252444.9:c.2020_2021del | ||
| ENST00000455727.6:c.1262_1263del | ENSP00000397829.2:p.Asp421GlyfsTer13 | |
| ENST00000535915.5:c.1643_1644del | ENSP00000440520.1:p.Asp548GlyfsTer13 | |
| ENST00000545707.5:c.1385_1386del | ENSP00000437639.1:p.Asp462GlyfsTer13 | |
| ENST00000557933.5:c.1766_1767del | ENSP00000453557.1:p.Asp589GlyfsTer13 | |
| ENST00000558013.5:c.1766_1767del | ENSP00000453346.1:p.Asp589GlyfsTer13 | |
| ENST00000558518.5:c.1766_1767del | ENSP00000454071.1:p.Asp589GlyfsTer13 | |
| ENST00000559340.1:c.426+707_426+708del | ||
| NM_000527.4:c.1766_1767del , LRG_274t1:c.1766_1767del | NP_000518.1:p.Asp589GlyfsTer13 | |
| NM_001195798.1:c.1766_1767del | NP_001182727.1:p.Asp589GlyfsTer13 | |
| NM_001195799.1:c.1643_1644del | NP_001182728.1:p.Asp548GlyfsTer13 | |
| NM_001195800.1:c.1262_1263del | NP_001182729.1:p.Asp421GlyfsTer13 | |
| NM_001195803.1:c.1385_1386del | NP_001182732.1:p.Asp462GlyfsTer13 | |
| XM_011528010.1:c.1766_1767del | XP_011526312.1:p.Asp589GlyfsTer13 | |
| XM_011528011.1:c.1385_1386del | XP_011526313.1:p.Asp462GlyfsTer13 | |
| XR_244074.2:n.1855+707_1855+708del | ||
| XM_011528010.2:c.1766_1767del | XP_011526312.1:p.Asp589GlyfsTer13 | |
| XR_001753685.2:n.1883_1884del | ||
| XR_001753686.2:n.1822+707_1822+708del | ||
| NM_000527.5:c.1766_1767del MANE Select | NP_000518.1:p.Asp589GlyfsTer13 | |
| NM_001195798.2:c.1766_1767del | NP_001182727.1:p.Asp589GlyfsTer13 | |
| NM_001195799.2:c.1643_1644del | NP_001182728.1:p.Asp548GlyfsTer13 | |
| NM_001195800.2:c.1262_1263del | NP_001182729.1:p.Asp421GlyfsTer13 | |
| NM_001195803.2:c.1385_1386del | NP_001182732.1:p.Asp462GlyfsTer13 |