Linked Data
ClinVar Variation Id:
251336
ClinVar RCV Id:
RCV000238022
dbSNP Id:
rs879254602
PubMed:
PMID:7903864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105538_11105540del , CM000681.2:g.11105538_11105540del | GRCh38 |
| NC_000019.9:g.11216214_11216216del , CM000681.1:g.11216214_11216216del | GRCh37 |
| NC_000019.8:g.11077214_11077216del | NCBI36 |
| NG_009060.1:g.21158_21160del , LRG_274:g.21158_21160del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.890_892del | ENSP00000252444.6:p.His297_Ser298delinsPr... | |
| ENST00000559340.2:c.632_634del | ENSP00000453696.2:p.His211_Ser212delinsPr... | |
| ENST00000560467.2:c.632_634del | ENSP00000453513.2:p.His211_Ser212delinsPr... | |
| ENST00000558518.6:c.632_634del MANE Select | ENSP00000454071.1:p.His211_Ser212delinsPr... | |
| ENST00000252444.9:c.886_888del | ||
| ENST00000455727.6:c.314-1854_314-1852del | ENSP00000397829.2:n.314-1854_314-1852del | |
| ENST00000535915.5:c.509_511del | ENSP00000440520.1:p.His170_Ser171delinsPr... | |
| ENST00000545707.5:c.314-1027_314-1025del | ENSP00000437639.1:n.314-1027_314-1025del | |
| ENST00000557933.5:c.632_634del | ENSP00000453557.1:p.His211_Ser212delinsPr... | |
| ENST00000558013.5:c.632_634del | ENSP00000453346.1:p.His211_Ser212delinsPr... | |
| ENST00000558518.5:c.632_634del | ENSP00000454071.1:p.His211_Ser212delinsPr... | |
| ENST00000560467.1:c.232_234del | ||
| NM_000527.4:c.632_634del , LRG_274t1:c.632_634del | NP_000518.1:p.His211_Ser212delinsPro | |
| NM_001195798.1:c.632_634del | NP_001182727.1:p.His211_Ser212delinsPro | |
| NM_001195799.1:c.509_511del | NP_001182728.1:p.His170_Ser171delinsPro | |
| NM_001195800.1:c.314-1854_314-1852del | NP_001182729.1:n.314-1854_314-1852del | |
| NM_001195803.1:c.314-1027_314-1025del | NP_001182732.1:n.314-1027_314-1025del | |
| XM_011528010.1:c.632_634del | XP_011526312.1:p.His211_Ser212delinsPro | |
| XM_011528011.1:c.314-1027_314-1025del | XP_011526313.1:n.314-1027_314-1025del | |
| XR_244074.2:n.782_784del | ||
| XM_011528010.2:c.632_634del | XP_011526312.1:p.His211_Ser212delinsPro | |
| XR_001753685.2:n.749_751del | ||
| XR_001753686.2:n.749_751del | ||
| NM_000527.5:c.632_634del MANE Select | NP_000518.1:p.His211_Ser212delinsPro | |
| NM_001195798.2:c.632_634del | NP_001182727.1:p.His211_Ser212delinsPro | |
| NM_001195799.2:c.509_511del | NP_001182728.1:p.His170_Ser171delinsPro | |
| NM_001195800.2:c.314-1854_314-1852del | NP_001182729.1:n.314-1854_314-1852del | |
| NM_001195803.2:c.314-1027_314-1025del | NP_001182732.1:n.314-1027_314-1025del |