Linked Data
ClinVar Variation Id:
252287
ClinVar RCV Id:
RCV000237424
dbSNP Id:
rs879255179
PubMed:
PMID:9375633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128018_11128038del , CM000681.2:g.11128018_11128038del | GRCh38 |
| NC_000019.9:g.11238694_11238714del , CM000681.1:g.11238694_11238714del | GRCh37 |
| NC_000019.8:g.11099694_11099714del | NCBI36 |
| NG_009060.1:g.43638_43658del , LRG_274:g.43638_43658del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2580_2600del | ENSP00000252444.6:p.Asp860_Asn866del | |
| ENST00000559340.2:c.*391_*411del | ENSP00000453696.2:n.*391_*411del | |
| ENST00000560467.2:c.2202_2222del | ENSP00000453513.2:p.Asp734_Asn740del | |
| ENST00000558518.6:c.2322_2342del MANE Select | ENSP00000454071.1:p.Asp774_Asn780del | |
| ENST00000252444.9:c.2576_2596del | ||
| ENST00000455727.6:c.1818_1838del | ENSP00000397829.2:p.Asp606_Asn612del | |
| ENST00000535915.5:c.2199_2219del | ENSP00000440520.1:p.Asp733_Asn739del | |
| ENST00000545707.5:c.1788_1808del | ENSP00000437639.1:p.Asp596_Asn602del | |
| ENST00000557933.5:c.2322_2342del | ENSP00000453557.1:p.Asp774_Asn780del | |
| ENST00000558013.5:c.2322_2342del | ENSP00000453346.1:p.Asp774_Asn780del | |
| ENST00000558518.5:c.2322_2342del | ENSP00000454071.1:p.Asp774_Asn780del | |
| ENST00000560628.1:n.108+364_108+384del | ||
| NM_000527.4:c.2322_2342del , LRG_274t1:c.2322_2342del | NP_000518.1:p.Asp774_Asn780del | |
| NM_001195798.1:c.2322_2342del | NP_001182727.1:p.Asp774_Asn780del | |
| NM_001195799.1:c.2199_2219del | NP_001182728.1:p.Asp733_Asn739del | |
| NM_001195800.1:c.1818_1838del | NP_001182729.1:p.Asp606_Asn612del | |
| NM_001195803.1:c.1788_1808del | NP_001182732.1:p.Asp596_Asn602del | |
| XM_011528010.1:c.2312-1495_2312-1475del | XP_011526312.1:n.2312-1495_2312-1475del | |
| XM_011528011.1:c.1941_1961del | XP_011526313.1:p.Asp647_Asn653del | |
| XR_244074.2:n.2332_2352del | ||
| XM_011528010.2:c.2312-1495_2312-1475del | XP_011526312.1:n.2312-1495_2312-1475del | |
| XR_001753685.2:n.2656_2676del | ||
| XR_001753686.2:n.2299_2319del | ||
| NM_000527.5:c.2322_2342del MANE Select | NP_000518.1:p.Asp774_Asn780del | |
| NM_001195798.2:c.2322_2342del | NP_001182727.1:p.Asp774_Asn780del | |
| NM_001195799.2:c.2199_2219del | NP_001182728.1:p.Asp733_Asn739del | |
| NM_001195800.2:c.1818_1838del | NP_001182729.1:p.Asp606_Asn612del | |
| NM_001195803.2:c.1788_1808del | NP_001182732.1:p.Asp596_Asn602del |