Canonical Allele Identifier: CA2411008277

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721494C= , CM000684.2:g.50721494C=	GRCh38
NC_000022.10:g.51159922C= , CM000684.1:g.51159922C=	GRCh37
NC_000022.9:g.49506788C=	NCBI36
NG_008607.2:g.52140C=
NG_070230.1:g.57278C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3262C=	ENSP00000489147.2:p.Pro1088=
ENST00000414786.7:n.3846C=
ENST00000445220.7:c.2314C=	ENSP00000489407.2:p.Pro772=
ENST00000664402.2:c.1804C=	ENSP00000499475.1:p.Pro602=
ENST00000673971.2:c.*2260C=	ENSP00000501192.1:n.*2260C=
ENST00000445220.6:c.2314C=	ENSP00000489407.2:p.Pro772=
ENST00000262795.6:c.3262C=	ENSP00000489147.2:p.Pro1088=
ENST00000664402.1:c.1804C=	ENSP00000499475.1:p.Pro602=
ENST00000673971.1:c.*2260C=	ENSP00000501192.1:n.*2260C=
ENST00000262795.5:c.3658C=	ENSP00000489147.1:p.Pro1220=
ENST00000414786.6:n.3846C=
ENST00000445220.5:c.3640C=	ENSP00000489407.1:p.Pro1214=