Canonical Allele Identifier: CA143727
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50261
ClinVar RCV Id: RCV000043496
dbSNP Id: rs387907357
MyVariant Identifiers: chr12:g.49375256_49375259dupAACA (hg19) chr12:g.48981473_48981476dupAACA (hg38)
PubMed: PMID:23434763
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981473_48981476dup , CM000674.2:g.48981473_48981476dup GRCh38
NC_000012.11:g.49375256_49375259dup , CM000674.1:g.49375256_49375259dup GRCh37
NC_000012.10:g.47661523_47661526dup NCBI36
NG_033141.1:g.8021_8024dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.946_949dup MANE Select ENSP00000293549.3:p.Ser317LysfsTer?
ENST00000293549.3:c.946_949dup ENSP00000293549.3:p.Ser317LysfsTer?
ENST00000613114.4:c.913_916dup ENSP00000481240.1:p.Ser306LysfsTer?
NM_005430.3:c.946_949dup NP_005421.1:p.Ser317LysfsTer?
NM_005430.4:c.946_949dup MANE Select NP_005421.1:p.Ser317LysfsTer?
Search 100 bp 5'
Search 100 bp 3'