Canonical Allele Identifier: CA2411008254

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721460C= , CM000684.2:g.50721460C=	GRCh38
NC_000022.10:g.51159888C= , CM000684.1:g.51159888C=	GRCh37
NC_000022.9:g.49506754C=	NCBI36
NG_008607.2:g.52106C=
NG_070230.1:g.57244C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3228C=	ENSP00000489147.2:p.Leu1076=
ENST00000414786.7:n.3812C=
ENST00000445220.7:c.2280C=	ENSP00000489407.2:p.Leu760=
ENST00000664402.2:c.1770C=	ENSP00000499475.1:p.Leu590=
ENST00000673971.2:c.*2226C=	ENSP00000501192.1:n.*2226C=
ENST00000445220.6:c.2280C=	ENSP00000489407.2:p.Leu760=
ENST00000262795.6:c.3228C=	ENSP00000489147.2:p.Leu1076=
ENST00000664402.1:c.1770C=	ENSP00000499475.1:p.Leu590=
ENST00000673971.1:c.*2226C=	ENSP00000501192.1:n.*2226C=
ENST00000262795.5:c.3624C=	ENSP00000489147.1:p.Leu1208=
ENST00000414786.6:n.3812C=
ENST00000445220.5:c.3606C=	ENSP00000489407.1:p.Leu1202=