Canonical Allele Identifier: CA2411007590

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720384G= , CM000684.2:g.50720384G=	GRCh38
NC_000022.10:g.51158812G= , CM000684.1:g.51158812G=	GRCh37
NC_000022.9:g.49505678G=	NCBI36
NG_008607.2:g.51030G=
NG_070230.1:g.56168G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2152G=	ENSP00000489147.2:p.Val718=
ENST00000414786.7:n.2736G=
ENST00000445220.7:c.1204G=	ENSP00000489407.2:p.Val402=
ENST00000664402.2:c.694G=	ENSP00000499475.1:p.Val232=
ENST00000673971.2:c.*1150G=	ENSP00000501192.1:n.*1150G=
ENST00000445220.6:c.1204G=	ENSP00000489407.2:p.Val402=
ENST00000262795.6:c.2152G=	ENSP00000489147.2:p.Val718=
ENST00000664402.1:c.694G=	ENSP00000499475.1:p.Val232=
ENST00000673971.1:c.*1150G=	ENSP00000501192.1:n.*1150G=
ENST00000262795.5:c.2548G=	ENSP00000489147.1:p.Val850=
ENST00000414786.6:n.2736G=
ENST00000445220.5:c.2530G=	ENSP00000489407.1:p.Val844=