Linked Data
ClinVar Variation Id:
251574
ClinVar RCV Id:
RCV000238549
dbSNP Id:
rs879254741
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110675_11110677del , CM000681.2:g.11110675_11110677del | GRCh38 |
| NC_000019.9:g.11221351_11221353del , CM000681.1:g.11221351_11221353del | GRCh37 |
| NC_000019.8:g.11082351_11082353del | NCBI36 |
| NG_009060.1:g.26295_26297del , LRG_274:g.26295_26297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1222_1224del | ENSP00000252444.6:p.Asn408del | |
| ENST00000559340.2:c.964_966del | ENSP00000453696.2:p.Asn322del | |
| ENST00000560467.2:c.941-839_941-837del | ENSP00000453513.2:n.941-839_941-837del | |
| ENST00000558518.6:c.964_966del MANE Select | ENSP00000454071.1:p.Asn322del | |
| ENST00000252444.9:c.1218_1220del | ||
| ENST00000455727.6:c.460_462del | ENSP00000397829.2:p.Asn154del | |
| ENST00000535915.5:c.841_843del | ENSP00000440520.1:p.Asn281del | |
| ENST00000545707.5:c.583_585del | ENSP00000437639.1:p.Asn195del | |
| ENST00000557933.5:c.964_966del | ENSP00000453557.1:p.Asn322del | |
| ENST00000558013.5:c.964_966del | ENSP00000453346.1:p.Asn322del | |
| ENST00000558518.5:c.964_966del | ENSP00000454071.1:p.Asn322del | |
| ENST00000560467.1:c.541-839_541-837del | ||
| NM_000527.4:c.964_966del , LRG_274t1:c.964_966del | NP_000518.1:p.Asn322del | |
| NM_001195798.1:c.964_966del | NP_001182727.1:p.Asn322del | |
| NM_001195799.1:c.841_843del | NP_001182728.1:p.Asn281del | |
| NM_001195800.1:c.460_462del | NP_001182729.1:p.Asn154del | |
| NM_001195803.1:c.583_585del | NP_001182732.1:p.Asn195del | |
| XM_011528010.1:c.964_966del | XP_011526312.1:p.Asn322del | |
| XM_011528011.1:c.583_585del | XP_011526313.1:p.Asn195del | |
| XR_244074.2:n.1114_1116del | ||
| XM_011528010.2:c.964_966del | XP_011526312.1:p.Asn322del | |
| XR_001753685.2:n.1081_1083del | ||
| XR_001753686.2:n.1081_1083del | ||
| NM_000527.5:c.964_966del MANE Select | NP_000518.1:p.Asn322del | |
| NM_001195798.2:c.964_966del | NP_001182727.1:p.Asn322del | |
| NM_001195799.2:c.841_843del | NP_001182728.1:p.Asn281del | |
| NM_001195800.2:c.460_462del | NP_001182729.1:p.Asn154del | |
| NM_001195803.2:c.583_585del | NP_001182732.1:p.Asn195del |