Canonical Allele Identifier: CA175262

Gene: ASCL1 PAH

Linked Data

• ClinVar Variation Id: 162756
• ClinVar RCV Id: RCV000150164 ; RCV003905284
• dbSNP Id: rs3832799
• gnomAD v3: 12-102958393-C-CGCAGCAGCAGCAGCA
• gnomAD v4: 12-102958393-C-CGCAGCAGCAGCAGCA
• MyVariant Identifiers: chr12:g.103352194_103352208dupCAGCAGCAGCAGCAG (hg19) ; chr12:g.103352208_103352209insCAGCAGCAGCAGCAG (hg19) ; chr12:g.103352171_103352172insGCAGCAGCAGCAGCA (hg19) ; chr12:g.102958416_102958430dupCAGCAGCAGCAGCAG (hg38) ; chr12:g.102958430_102958431insCAGCAGCAGCAGCAG (hg38) ; chr12:g.102958393_102958394insGCAGCAGCAGCAGCA (hg38)
• PubMed: PMID:16021468 ; PMID:20097173

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102958416_102958430dup , CM000674.2:g.102958416_102958430dup	GRCh38
NC_000012.11:g.103352194_103352208dup , CM000674.1:g.103352194_103352208dup	GRCh37
NC_000012.10:g.101876324_101876338dup	NCBI36
NG_008950.1:g.5743_5757dup
NG_008690.2:g.5003_5017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266744.4:c.172_186dup (ASCL1) MANE Select	ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGlnGlnGln
ENST00000266744.3:c.172_186dup (ASCL1)	ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGlnGlnGln
NM_004316.3:c.172_186dup (ASCL1)	NP_004307.2:p.Gln62_Ala63insGlnGlnGlnGlnGln
NM_004316.4:c.172_186dup (ASCL1) MANE Select	NP_004307.2:p.Gln62_Ala63insGlnGlnGlnGlnGln
NM_001354304.2:c.-309_-295dup (PAH)	NP_001341233.1:n.-309_-295dup