Canonical Allele Identifier: CA2411008390

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721672T= , CM000684.2:g.50721672T=	GRCh38
NC_000022.10:g.51160100T= , CM000684.1:g.51160100T=	GRCh37
NC_000022.9:g.49506966T=	NCBI36
NG_008607.2:g.52318T=
NG_070230.1:g.57456T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3440T=	ENSP00000489147.2:p.Val1147=
ENST00000414786.7:n.4024T=
ENST00000445220.7:c.2492T=	ENSP00000489407.2:p.Val831=
ENST00000664402.2:c.1982T=	ENSP00000499475.1:p.Val661=
ENST00000673971.2:c.*2438T=	ENSP00000501192.1:n.*2438T=
ENST00000445220.6:c.2492T=	ENSP00000489407.2:p.Val831=
ENST00000262795.6:c.3440T=	ENSP00000489147.2:p.Val1147=
ENST00000664402.1:c.1982T=	ENSP00000499475.1:p.Val661=
ENST00000673971.1:c.*2438T=	ENSP00000501192.1:n.*2438T=
ENST00000262795.5:c.3836T=	ENSP00000489147.1:p.Val1279=
ENST00000414786.6:n.4024T=
ENST00000445220.5:c.3818T=	ENSP00000489407.1:p.Val1273=