Canonical Allele Identifier: CA2411008018

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721082C= , CM000684.2:g.50721082C=	GRCh38
NC_000022.10:g.51159510C= , CM000684.1:g.51159510C=	GRCh37
NC_000022.9:g.49506376C=	NCBI36
NG_008607.2:g.51728C=
NG_070230.1:g.56866C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2850C=	ENSP00000489147.2:p.Gly950=
ENST00000414786.7:n.3434C=
ENST00000445220.7:c.1902C=	ENSP00000489407.2:p.Gly634=
ENST00000664402.2:c.1392C=	ENSP00000499475.1:p.Gly464=
ENST00000673971.2:c.*1848C=	ENSP00000501192.1:n.*1848C=
ENST00000445220.6:c.1902C=	ENSP00000489407.2:p.Gly634=
ENST00000262795.6:c.2850C=	ENSP00000489147.2:p.Gly950=
ENST00000664402.1:c.1392C=	ENSP00000499475.1:p.Gly464=
ENST00000673971.1:c.*1848C=	ENSP00000501192.1:n.*1848C=
ENST00000262795.5:c.3246C=	ENSP00000489147.1:p.Gly1082=
ENST00000414786.6:n.3434C=
ENST00000445220.5:c.3228C=	ENSP00000489407.1:p.Gly1076=