Canonical Allele Identifier: CA2580070325
Community Standard Title: NM_003392.7(WNT5A):c.588_589dup (p.Val197AlafsTer23)
Gene: WNT5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.55474432_55474433dup , CM000665.2:g.55474432_55474433dup GRCh38
NC_000003.11:g.55508460_55508461dup , CM000665.1:g.55508460_55508461dup GRCh37
NC_000003.10:g.55483500_55483501dup NCBI36
NG_031992.1:g.18210_18211dup

Transcript Alleles

HGVS Amino-acid Change
NM_003392.7:c.588_589dup MANE Select NP_003383.4:p.Val197AlafsTer23
ENST00000264634.9:c.588_589dup MANE Select ENSP00000264634.4:p.Val197AlafsTer23
NM_001256105.1:c.543_544dup NP_001243034.1:p.Val182AlafsTer23
NM_001377271.1:c.543_544dup NP_001364200.1:p.Val182AlafsTer23
NM_001377272.1:c.543_544dup NP_001364201.1:p.Val182AlafsTer23
NM_003392.4:c.588_589dup NP_003383.2:p.Val197AlafsTer23
NM_003392.5:c.543_544dup NP_003383.3:p.Val182AlafsTer23
ENST00000264634.8:c.588_589dup ENSP00000264634.4:p.Val197AlafsTer23
ENST00000474267.5:c.588_589dup ENSP00000417310.1:p.Val197AlafsTer23
ENST00000482079.1:c.543_544dup ENSP00000418184.1:p.Val182AlafsTer23
ENST00000497027.5:c.543_544dup ENSP00000420104.1:p.Val182AlafsTer23
ENST00000614415.1:c.178-4179_178-4178dup ENSP00000478784.1:n.178-4179_178-4178dup
XM_006713324.1:c.543_544dup XP_006713387.1:p.Val182AlafsTer23
XM_011534081.1:c.543_544dup XP_011532383.1:p.Val182AlafsTer23
XM_011534082.1:c.543_544dup XP_011532384.1:p.Val182AlafsTer23
XM_011534083.1:c.543_544dup XP_011532385.1:p.Val182AlafsTer23
XM_011534084.1:c.543_544dup XP_011532386.1:p.Val182AlafsTer23
XM_011534085.1:c.543_544dup XP_011532387.1:p.Val182AlafsTer23
XM_011534085.2:c.543_544dup XP_011532387.1:p.Val182AlafsTer23
XM_011534086.1:c.543_544dup XP_011532388.1:p.Val182AlafsTer23
XM_011534086.2:c.543_544dup XP_011532388.1:p.Val182AlafsTer23
XM_011534087.1:c.543_544dup XP_011532389.1:p.Val182AlafsTer23
XM_011534087.2:c.543_544dup XP_011532389.1:p.Val182AlafsTer23
XM_011534088.1:c.543_544dup XP_011532390.1:p.Val182AlafsTer23
XM_011534088.2:c.543_544dup XP_011532390.1:p.Val182AlafsTer23
XM_011534089.1:c.543_544dup XP_011532391.1:p.Val182AlafsTer23
XM_017007127.1:c.630_631dup XP_016862616.1:p.Val211AlafsTer23
XM_017007128.1:c.543_544dup XP_016862617.1:p.Val182AlafsTer23