Canonical Allele Identifier: CA175262
Gene: ASCL1 HGNC NCBI
PAH HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'