Linked Data
ClinVar Variation Id:
1167715
ClinVar RCV Id:
RCV001517286
dbSNP Id:
rs760191922
ExAC:
12:132425827 TC / T
gnomAD v2:
12-132425827-TC-T
gnomAD v3:
12-131941282-TC-T
gnomAD v4:
12-131941282-TC-T
MyVariant Identifiers:
chr12:g.132425828del (hg19)
chr12:g.131941284del (hg38)
chr12:g.131941283del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941288del , CM000674.2:g.131941288del | GRCh38 |
| NC_000012.11:g.132425833del , CM000674.1:g.132425833del | GRCh37 |
| NC_000012.10:g.130991786del | NCBI36 |
| NG_013039.1:g.17089del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.545-4del MANE Select | ENSP00000365837.3:n.545-4del | |
| ENST00000322060.9:c.461-4del | ENSP00000324726.5:n.461-4del | |
| ENST00000376649.7:c.545-4del | ENSP00000365837.3:n.545-4del | |
| ENST00000443358.6:c.461-4del | ENSP00000392451.2:n.461-4del | |
| ENST00000535067.5:c.358-2251del | ENSP00000443969.1:n.358-2251del | |
| ENST00000537484.1:c.470-4del | ENSP00000440179.1:n.470-4del | |
| ENST00000542167.2:c.386-4del | ENSP00000438948.1:n.386-4del | |
| ENST00000543754.1:n.362del | ||
| NM_001002019.2:c.461-4del | NP_001002019.1:n.461-4del | |
| NM_001002020.2:c.461-4del | NP_001002020.1:n.461-4del | |
| NM_025215.5:c.545-4del | NP_079491.2:n.545-4del | |
| XM_011538768.1:c.146-4del | XP_011537070.1:n.146-4del | |
| XM_011538768.3:c.146-4del | XP_011537070.1:n.146-4del | |
| XR_001748872.1:n.1000-4del | ||
| NM_001002019.3:c.461-4del | NP_001002019.1:n.461-4del | |
| NM_001002020.3:c.461-4del | NP_001002020.1:n.461-4del | |
| NM_025215.6:c.545-4del MANE Select | NP_079491.2:n.545-4del |