Canonical Allele Identifier: CA2411007990

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721034C= , CM000684.2:g.50721034C=	GRCh38
NC_000022.10:g.51159462C= , CM000684.1:g.51159462C=	GRCh37
NC_000022.9:g.49506328C=	NCBI36
NG_008607.2:g.51680C=
NG_070230.1:g.56818C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2802C=	ENSP00000489147.2:p.Asp934=
ENST00000414786.7:n.3386C=
ENST00000445220.7:c.1854C=	ENSP00000489407.2:p.Asp618=
ENST00000664402.2:c.1344C=	ENSP00000499475.1:p.Asp448=
ENST00000673971.2:c.*1800C=	ENSP00000501192.1:n.*1800C=
ENST00000445220.6:c.1854C=	ENSP00000489407.2:p.Asp618=
ENST00000262795.6:c.2802C=	ENSP00000489147.2:p.Asp934=
ENST00000664402.1:c.1344C=	ENSP00000499475.1:p.Asp448=
ENST00000673971.1:c.*1800C=	ENSP00000501192.1:n.*1800C=
ENST00000262795.5:c.3198C=	ENSP00000489147.1:p.Asp1066=
ENST00000414786.6:n.3386C=
ENST00000445220.5:c.3180C=	ENSP00000489407.1:p.Asp1060=