Canonical Allele Identifier: CA2411007717

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720611C= , CM000684.2:g.50720611C=	GRCh38
NC_000022.10:g.51159039C= , CM000684.1:g.51159039C=	GRCh37
NC_000022.9:g.49505905C=	NCBI36
NG_008607.2:g.51257C=
NG_070230.1:g.56395C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2379C=	ENSP00000489147.2:p.Gly793=
ENST00000414786.7:n.2963C=
ENST00000445220.7:c.1431C=	ENSP00000489407.2:p.Gly477=
ENST00000664402.2:c.921C=	ENSP00000499475.1:p.Gly307=
ENST00000673971.2:c.*1377C=	ENSP00000501192.1:n.*1377C=
ENST00000445220.6:c.1431C=	ENSP00000489407.2:p.Gly477=
ENST00000262795.6:c.2379C=	ENSP00000489147.2:p.Gly793=
ENST00000664402.1:c.921C=	ENSP00000499475.1:p.Gly307=
ENST00000673971.1:c.*1377C=	ENSP00000501192.1:n.*1377C=
ENST00000262795.5:c.2775C=	ENSP00000489147.1:p.Gly925=
ENST00000414786.6:n.2963C=
ENST00000445220.5:c.2757C=	ENSP00000489407.1:p.Gly919=