Linked Data
ClinVar Variation Id:
251591
ClinVar RCV Id:
RCV000237600
dbSNP Id:
rs879254752
PubMed:
PMID:9409298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110720_11110743del , CM000681.2:g.11110720_11110743del | GRCh38 |
| NC_000019.9:g.11221396_11221419del , CM000681.1:g.11221396_11221419del | GRCh37 |
| NC_000019.8:g.11082396_11082419del | NCBI36 |
| NG_009060.1:g.26340_26363del , LRG_274:g.26340_26363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1267_1290del | ENSP00000252444.6:p.Glu423_Phe430del | |
| ENST00000559340.2:c.1009_1032del | ENSP00000453696.2:p.Glu337_Phe344del | |
| ENST00000560467.2:c.941-794_941-771del | ENSP00000453513.2:n.941-794_941-771del | |
| ENST00000558518.6:c.1009_1032del MANE Select | ENSP00000454071.1:p.Glu337_Phe344del | |
| ENST00000252444.9:c.1263_1286del | ||
| ENST00000455727.6:c.505_528del | ENSP00000397829.2:p.Glu169_Phe176del | |
| ENST00000535915.5:c.886_909del | ENSP00000440520.1:p.Glu296_Phe303del | |
| ENST00000545707.5:c.628_651del | ENSP00000437639.1:p.Glu210_Phe217del | |
| ENST00000557933.5:c.1009_1032del | ENSP00000453557.1:p.Glu337_Phe344del | |
| ENST00000558013.5:c.1009_1032del | ENSP00000453346.1:p.Glu337_Phe344del | |
| ENST00000558518.5:c.1009_1032del | ENSP00000454071.1:p.Glu337_Phe344del | |
| ENST00000560173.1:n.8_31del | ||
| ENST00000560467.1:c.541-794_541-771del | ||
| NM_000527.4:c.1009_1032del , LRG_274t1:c.1009_1032del | NP_000518.1:p.Glu337_Phe344del | |
| NM_001195798.1:c.1009_1032del | NP_001182727.1:p.Glu337_Phe344del | |
| NM_001195799.1:c.886_909del | NP_001182728.1:p.Glu296_Phe303del | |
| NM_001195800.1:c.505_528del | NP_001182729.1:p.Glu169_Phe176del | |
| NM_001195803.1:c.628_651del | NP_001182732.1:p.Glu210_Phe217del | |
| XM_011528010.1:c.1009_1032del | XP_011526312.1:p.Glu337_Phe344del | |
| XM_011528011.1:c.628_651del | XP_011526313.1:p.Glu210_Phe217del | |
| XR_244074.2:n.1159_1182del | ||
| XM_011528010.2:c.1009_1032del | XP_011526312.1:p.Glu337_Phe344del | |
| XR_001753685.2:n.1126_1149del | ||
| XR_001753686.2:n.1126_1149del | ||
| NM_000527.5:c.1009_1032del MANE Select | NP_000518.1:p.Glu337_Phe344del | |
| NM_001195798.2:c.1009_1032del | NP_001182727.1:p.Glu337_Phe344del | |
| NM_001195799.2:c.886_909del | NP_001182728.1:p.Glu296_Phe303del | |
| NM_001195800.2:c.505_528del | NP_001182729.1:p.Glu169_Phe176del | |
| NM_001195803.2:c.628_651del | NP_001182732.1:p.Glu210_Phe217del |