Linked Data
ClinVar Variation Id:
369869
dbSNP Id:
rs867272973
MyVariant Identifiers:
chr19:g.11230833del (hg19)
chr19:g.11230832del (hg19)
chr19:g.11120157del (hg38)
chr19:g.11120156del (hg38)
PubMed:
PMID:27765764
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120157del , CM000681.2:g.11120157del | GRCh38 |
| NC_000019.9:g.11230833del , CM000681.1:g.11230833del | GRCh37 |
| NC_000019.8:g.11091833del | NCBI36 |
| NG_009060.1:g.35777del , LRG_274:g.35777del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2169del | ENSP00000252444.6:p.Asp724MetfsTer27 | |
| ENST00000559340.2:c.1771del | ENSP00000453696.2:p.Arg591AspfsTer? | |
| ENST00000560467.2:c.1791del | ENSP00000453513.2:p.Asp598MetfsTer27 | |
| ENST00000558518.6:c.1911del MANE Select | ENSP00000454071.1:p.Asp638MetfsTer27 | |
| ENST00000252444.9:c.2165del | ||
| ENST00000455727.6:c.1407del | ENSP00000397829.2:p.Asp470MetfsTer27 | |
| ENST00000535915.5:c.1788del | ENSP00000440520.1:p.Asp597MetfsTer27 | |
| ENST00000545707.5:c.1530del | ENSP00000437639.1:p.Asp511MetfsTer? | |
| ENST00000557933.5:c.1911del | ENSP00000453557.1:p.Asp638MetfsTer27 | |
| ENST00000558013.5:c.1911del | ENSP00000453346.1:p.Asp638MetfsTer27 | |
| ENST00000558518.5:c.1911del | ENSP00000454071.1:p.Asp638MetfsTer27 | |
| ENST00000559340.1:c.492del | ||
| NM_000527.4:c.1911del , LRG_274t1:c.1911del | NP_000518.1:p.Asp638MetfsTer27 | |
| NM_001195798.1:c.1911del | NP_001182727.1:p.Asp638MetfsTer27 | |
| NM_001195799.1:c.1788del | NP_001182728.1:p.Asp597MetfsTer27 | |
| NM_001195800.1:c.1407del | NP_001182729.1:p.Asp470MetfsTer27 | |
| NM_001195803.1:c.1530del | NP_001182732.1:p.Asp511MetfsTer? | |
| XM_011528010.1:c.1911del | XP_011526312.1:p.Asp638MetfsTer27 | |
| XM_011528011.1:c.1530del | XP_011526313.1:p.Asp511MetfsTer27 | |
| XR_244074.2:n.1921del | ||
| XM_011528010.2:c.1911del | XP_011526312.1:p.Asp638MetfsTer27 | |
| XR_001753685.2:n.2028del | ||
| XR_001753686.2:n.1888del | ||
| NM_000527.5:c.1911del MANE Select | NP_000518.1:p.Asp638MetfsTer27 | |
| NM_001195798.2:c.1911del | NP_001182727.1:p.Asp638MetfsTer27 | |
| NM_001195799.2:c.1788del | NP_001182728.1:p.Asp597MetfsTer27 | |
| NM_001195800.2:c.1407del | NP_001182729.1:p.Asp470MetfsTer27 | |
| NM_001195803.2:c.1530del | NP_001182732.1:p.Asp511MetfsTer? |