Linked Data
ClinVar Variation Id:
193277
dbSNP Id:
rs3832799
gnomAD v3:
12-102958393-CGCAGCAGCAGCAGCA-C
gnomAD v4:
12-102958393-CGCAGCAGCAGCAGCA-C
MyVariant Identifiers:
chr12:g.103352194_103352208del (hg19)
chr12:g.103352172_103352186del (hg19)
chr12:g.102958416_102958430del (hg38)
chr12:g.102958394_102958408del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102958416_102958430del , CM000674.2:g.102958416_102958430del | GRCh38 |
| NC_000012.11:g.103352194_103352208del , CM000674.1:g.103352194_103352208del | GRCh37 |
| NC_000012.10:g.101876324_101876338del | NCBI36 |
| NG_008950.1:g.5743_5757del | |
| NG_008690.2:g.5003_5017del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266744.4:c.172_186del (ASCL1) MANE Select | ENSP00000266744.3:p.Gln58_Gln62del | |
| ENST00000266744.3:c.172_186del (ASCL1) | ENSP00000266744.3:p.Gln58_Gln62del | |
| NM_004316.3:c.172_186del (ASCL1) | NP_004307.2:p.Gln58_Gln62del | |
| NM_004316.4:c.172_186del (ASCL1) MANE Select | NP_004307.2:p.Gln58_Gln62del | |
| NM_001354304.2:c.-309_-295del (PAH) | NP_001341233.1:n.-309_-295del |