Canonical Allele Identifier: CA2411008033

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721101G= , CM000684.2:g.50721101G=	GRCh38
NC_000022.10:g.51159529G= , CM000684.1:g.51159529G=	GRCh37
NC_000022.9:g.49506395G=	NCBI36
NG_008607.2:g.51747G=
NG_070230.1:g.56885G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2869G=	ENSP00000489147.2:p.Gly957=
ENST00000414786.7:n.3453G=
ENST00000445220.7:c.1921G=	ENSP00000489407.2:p.Gly641=
ENST00000664402.2:c.1411G=	ENSP00000499475.1:p.Gly471=
ENST00000673971.2:c.*1867G=	ENSP00000501192.1:n.*1867G=
ENST00000445220.6:c.1921G=	ENSP00000489407.2:p.Gly641=
ENST00000262795.6:c.2869G=	ENSP00000489147.2:p.Gly957=
ENST00000664402.1:c.1411G=	ENSP00000499475.1:p.Gly471=
ENST00000673971.1:c.*1867G=	ENSP00000501192.1:n.*1867G=
ENST00000262795.5:c.3265G=	ENSP00000489147.1:p.Gly1089=
ENST00000414786.6:n.3453G=
ENST00000445220.5:c.3247G=	ENSP00000489407.1:p.Gly1083=