Canonical Allele Identifier: CA2411008471

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721807G= , CM000684.2:g.50721807G=	GRCh38
NC_000022.10:g.51160235G= , CM000684.1:g.51160235G=	GRCh37
NC_000022.9:g.49507101G=	NCBI36
NG_008607.2:g.52453G=
NG_070230.1:g.57591G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3575G=	ENSP00000489147.2:p.Gly1192=
ENST00000414786.7:n.4159G=
ENST00000445220.7:c.2627G=	ENSP00000489407.2:p.Gly876=
ENST00000664402.2:c.2117G=	ENSP00000499475.1:p.Gly706=
ENST00000673971.2:c.*2573G=	ENSP00000501192.1:n.*2573G=
ENST00000445220.6:c.2627G=	ENSP00000489407.2:p.Gly876=
ENST00000262795.6:c.3575G=	ENSP00000489147.2:p.Gly1192=
ENST00000664402.1:c.2117G=	ENSP00000499475.1:p.Gly706=
ENST00000673971.1:c.*2573G=	ENSP00000501192.1:n.*2573G=
ENST00000262795.5:c.3971G=	ENSP00000489147.1:p.Gly1324=
ENST00000414786.6:n.4159G=
ENST00000445220.5:c.3953G=	ENSP00000489407.1:p.Gly1318=