Canonical Allele Identifier: CA2411007627

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720462C= , CM000684.2:g.50720462C=	GRCh38
NC_000022.10:g.51158890C= , CM000684.1:g.51158890C=	GRCh37
NC_000022.9:g.49505756C=	NCBI36
NG_008607.2:g.51108C=
NG_070230.1:g.56246C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2230C=	ENSP00000489147.2:p.Leu744=
ENST00000414786.7:n.2814C=
ENST00000445220.7:c.1282C=	ENSP00000489407.2:p.Leu428=
ENST00000664402.2:c.772C=	ENSP00000499475.1:p.Leu258=
ENST00000673971.2:c.*1228C=	ENSP00000501192.1:n.*1228C=
ENST00000445220.6:c.1282C=	ENSP00000489407.2:p.Leu428=
ENST00000262795.6:c.2230C=	ENSP00000489147.2:p.Leu744=
ENST00000664402.1:c.772C=	ENSP00000499475.1:p.Leu258=
ENST00000673971.1:c.*1228C=	ENSP00000501192.1:n.*1228C=
ENST00000262795.5:c.2626C=	ENSP00000489147.1:p.Leu876=
ENST00000414786.6:n.2814C=
ENST00000445220.5:c.2608C=	ENSP00000489407.1:p.Leu870=