Canonical Allele Identifier: CA175264

Gene: ASCL1 PAH

Linked Data

• ClinVar Variation Id: 162757
• ClinVar RCV Id: RCV000150165 ; RCV001610457
• dbSNP Id: rs3832799
• ExAC: 12:103352171 C / CGCAGCAGCA
• gnomAD v2: 12-103352171-C-CGCAGCAGCA
• gnomAD v3: 12-102958393-C-CGCAGCAGCA
• gnomAD v4: 12-102958393-C-CGCAGCAGCA
• MyVariant Identifiers: chr12:g.103352200_103352208dupCAGCAGCAG (hg19) ; chr12:g.103352180_103352181insGCAGCAGCA (hg19) ; chr12:g.103352174_103352175insGCAGCAGCA (hg19) ; chr12:g.103352171_103352172insGCAGCAGCA (hg19) ; chr12:g.102958422_102958430dupCAGCAGCAG (hg38) ; chr12:g.102958402_102958403insGCAGCAGCA (hg38) ; chr12:g.102958393_102958394insGCAGCAGCA (hg38)
• PubMed: PMID:14566559 ; PMID:16021468 ; PMID:20097173

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102958422_102958430dup , CM000674.2:g.102958422_102958430dup	GRCh38
NC_000012.11:g.103352200_103352208dup , CM000674.1:g.103352200_103352208dup	GRCh37
NC_000012.10:g.101876330_101876338dup	NCBI36
NG_008950.1:g.5749_5757dup
NG_008690.2:g.5009_5017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266744.4:c.178_186dup (ASCL1) MANE Select	ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGln
ENST00000266744.3:c.178_186dup (ASCL1)	ENSP00000266744.3:p.Gln62_Ala63insGlnGlnGln
NM_004316.3:c.178_186dup (ASCL1)	NP_004307.2:p.Gln62_Ala63insGlnGlnGln
NM_004316.4:c.178_186dup (ASCL1) MANE Select	NP_004307.2:p.Gln62_Ala63insGlnGlnGln
NM_001354304.2:c.-303_-295dup (PAH)	NP_001341233.1:n.-303_-295dup