Canonical Allele Identifier: CA2411007823

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720782C= , CM000684.2:g.50720782C=	GRCh38
NC_000022.10:g.51159210C= , CM000684.1:g.51159210C=	GRCh37
NC_000022.9:g.49506076C=	NCBI36
NG_008607.2:g.51428C=
NG_070230.1:g.56566C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2550C=	ENSP00000489147.2:p.Arg850=
ENST00000414786.7:n.3134C=
ENST00000445220.7:c.1602C=	ENSP00000489407.2:p.Arg534=
ENST00000664402.2:c.1092C=	ENSP00000499475.1:p.Arg364=
ENST00000673971.2:c.*1548C=	ENSP00000501192.1:n.*1548C=
ENST00000445220.6:c.1602C=	ENSP00000489407.2:p.Arg534=
ENST00000262795.6:c.2550C=	ENSP00000489147.2:p.Arg850=
ENST00000664402.1:c.1092C=	ENSP00000499475.1:p.Arg364=
ENST00000673971.1:c.*1548C=	ENSP00000501192.1:n.*1548C=
ENST00000262795.5:c.2946C=	ENSP00000489147.1:p.Arg982=
ENST00000414786.6:n.3134C=
ENST00000445220.5:c.2928C=	ENSP00000489407.1:p.Arg976=