Canonical Allele Identifier: CA2411007938

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720954G= , CM000684.2:g.50720954G=	GRCh38
NC_000022.10:g.51159382G= , CM000684.1:g.51159382G=	GRCh37
NC_000022.9:g.49506248G=	NCBI36
NG_008607.2:g.51600G=
NG_070230.1:g.56738G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2722G=	ENSP00000489147.2:p.Gly908=
ENST00000414786.7:n.3306G=
ENST00000445220.7:c.1774G=	ENSP00000489407.2:p.Gly592=
ENST00000664402.2:c.1264G=	ENSP00000499475.1:p.Gly422=
ENST00000673971.2:c.*1720G=	ENSP00000501192.1:n.*1720G=
ENST00000445220.6:c.1774G=	ENSP00000489407.2:p.Gly592=
ENST00000262795.6:c.2722G=	ENSP00000489147.2:p.Gly908=
ENST00000664402.1:c.1264G=	ENSP00000499475.1:p.Gly422=
ENST00000673971.1:c.*1720G=	ENSP00000501192.1:n.*1720G=
ENST00000262795.5:c.3118G=	ENSP00000489147.1:p.Gly1040=
ENST00000414786.6:n.3306G=
ENST00000445220.5:c.3100G=	ENSP00000489407.1:p.Gly1034=