Canonical Allele Identifier: CA2411007790

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720742C= , CM000684.2:g.50720742C=	GRCh38
NC_000022.10:g.51159170C= , CM000684.1:g.51159170C=	GRCh37
NC_000022.9:g.49506036C=	NCBI36
NG_008607.2:g.51388C=
NG_070230.1:g.56526C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2510C=	ENSP00000489147.2:p.Ala837=
ENST00000414786.7:n.3094C=
ENST00000445220.7:c.1562C=	ENSP00000489407.2:p.Ala521=
ENST00000664402.2:c.1052C=	ENSP00000499475.1:p.Ala351=
ENST00000673971.2:c.*1508C=	ENSP00000501192.1:n.*1508C=
ENST00000445220.6:c.1562C=	ENSP00000489407.2:p.Ala521=
ENST00000262795.6:c.2510C=	ENSP00000489147.2:p.Ala837=
ENST00000664402.1:c.1052C=	ENSP00000499475.1:p.Ala351=
ENST00000673971.1:c.*1508C=	ENSP00000501192.1:n.*1508C=
ENST00000262795.5:c.2906C=	ENSP00000489147.1:p.Ala969=
ENST00000414786.6:n.3094C=
ENST00000445220.5:c.2888C=	ENSP00000489407.1:p.Ala963=