Canonical Allele Identifier: CA2411008041

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721116C= , CM000684.2:g.50721116C=	GRCh38
NC_000022.10:g.51159544C= , CM000684.1:g.51159544C=	GRCh37
NC_000022.9:g.49506410C=	NCBI36
NG_008607.2:g.51762C=
NG_070230.1:g.56900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2884C=	ENSP00000489147.2:p.His962=
ENST00000414786.7:n.3468C=
ENST00000445220.7:c.1936C=	ENSP00000489407.2:p.His646=
ENST00000664402.2:c.1426C=	ENSP00000499475.1:p.His476=
ENST00000673971.2:c.*1882C=	ENSP00000501192.1:n.*1882C=
ENST00000445220.6:c.1936C=	ENSP00000489407.2:p.His646=
ENST00000262795.6:c.2884C=	ENSP00000489147.2:p.His962=
ENST00000664402.1:c.1426C=	ENSP00000499475.1:p.His476=
ENST00000673971.1:c.*1882C=	ENSP00000501192.1:n.*1882C=
ENST00000262795.5:c.3280C=	ENSP00000489147.1:p.His1094=
ENST00000414786.6:n.3468C=
ENST00000445220.5:c.3262C=	ENSP00000489407.1:p.His1088=