Canonical Allele Identifier: CA2411008204

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721384A= , CM000684.2:g.50721384A=	GRCh38
NC_000022.10:g.51159812A= , CM000684.1:g.51159812A=	GRCh37
NC_000022.9:g.49506678A=	NCBI36
NG_008607.2:g.52030A=
NG_070230.1:g.57168A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3152A=	ENSP00000489147.2:p.Glu1051=
ENST00000414786.7:n.3736A=
ENST00000445220.7:c.2204A=	ENSP00000489407.2:p.Glu735=
ENST00000664402.2:c.1694A=	ENSP00000499475.1:p.Glu565=
ENST00000673971.2:c.*2150A=	ENSP00000501192.1:n.*2150A=
ENST00000445220.6:c.2204A=	ENSP00000489407.2:p.Glu735=
ENST00000262795.6:c.3152A=	ENSP00000489147.2:p.Glu1051=
ENST00000664402.1:c.1694A=	ENSP00000499475.1:p.Glu565=
ENST00000673971.1:c.*2150A=	ENSP00000501192.1:n.*2150A=
ENST00000262795.5:c.3548A=	ENSP00000489147.1:p.Glu1183=
ENST00000414786.6:n.3736A=
ENST00000445220.5:c.3530A=	ENSP00000489407.1:p.Glu1177=