Canonical Allele Identifier: CA2411007756

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720683C= , CM000684.2:g.50720683C=	GRCh38
NC_000022.10:g.51159111C= , CM000684.1:g.51159111C=	GRCh37
NC_000022.9:g.49505977C=	NCBI36
NG_008607.2:g.51329C=
NG_070230.1:g.56467C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2451C=	ENSP00000489147.2:p.Arg817=
ENST00000414786.7:n.3035C=
ENST00000445220.7:c.1503C=	ENSP00000489407.2:p.Arg501=
ENST00000664402.2:c.993C=	ENSP00000499475.1:p.Arg331=
ENST00000673971.2:c.*1449C=	ENSP00000501192.1:n.*1449C=
ENST00000445220.6:c.1503C=	ENSP00000489407.2:p.Arg501=
ENST00000262795.6:c.2451C=	ENSP00000489147.2:p.Arg817=
ENST00000664402.1:c.993C=	ENSP00000499475.1:p.Arg331=
ENST00000673971.1:c.*1449C=	ENSP00000501192.1:n.*1449C=
ENST00000262795.5:c.2847C=	ENSP00000489147.1:p.Arg949=
ENST00000414786.6:n.3035C=
ENST00000445220.5:c.2829C=	ENSP00000489407.1:p.Arg943=