Canonical Allele Identifier: CA2411008714

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722273C= , CM000684.2:g.50722273C=	GRCh38
NC_000022.10:g.51160701C= , CM000684.1:g.51160701C=	GRCh37
NC_000022.9:g.49507567C=	NCBI36
NG_008607.2:g.52919C=
NG_070230.1:g.58057C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4041C=	ENSP00000489147.2:p.Ser1347=
ENST00000414786.7:n.4625C=
ENST00000445220.7:c.3093C=	ENSP00000489407.2:p.Ser1031=
ENST00000664402.2:c.2583C=	ENSP00000499475.1:p.Ser861=
ENST00000673971.2:c.*3039C=	ENSP00000501192.1:n.*3039C=
ENST00000445220.6:c.3093C=	ENSP00000489407.2:p.Ser1031=
ENST00000262795.6:c.4041C=	ENSP00000489147.2:p.Ser1347=
ENST00000664402.1:c.2583C=	ENSP00000499475.1:p.Ser861=
ENST00000673971.1:c.*3039C=	ENSP00000501192.1:n.*3039C=
ENST00000262795.5:c.4437C=	ENSP00000489147.1:p.Ser1479=
ENST00000414786.6:n.4625C=
ENST00000445220.5:c.4419C=	ENSP00000489407.1:p.Ser1473=