Canonical Allele Identifier: CA2411007919

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720930G= , CM000684.2:g.50720930G=	GRCh38
NC_000022.10:g.51159358G= , CM000684.1:g.51159358G=	GRCh37
NC_000022.9:g.49506224G=	NCBI36
NG_008607.2:g.51576G=
NG_070230.1:g.56714G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2698G=	ENSP00000489147.2:p.Gly900=
ENST00000414786.7:n.3282G=
ENST00000445220.7:c.1750G=	ENSP00000489407.2:p.Gly584=
ENST00000664402.2:c.1240G=	ENSP00000499475.1:p.Gly414=
ENST00000673971.2:c.*1696G=	ENSP00000501192.1:n.*1696G=
ENST00000445220.6:c.1750G=	ENSP00000489407.2:p.Gly584=
ENST00000262795.6:c.2698G=	ENSP00000489147.2:p.Gly900=
ENST00000664402.1:c.1240G=	ENSP00000499475.1:p.Gly414=
ENST00000673971.1:c.*1696G=	ENSP00000501192.1:n.*1696G=
ENST00000262795.5:c.3094G=	ENSP00000489147.1:p.Gly1032=
ENST00000414786.6:n.3282G=
ENST00000445220.5:c.3076G=	ENSP00000489407.1:p.Gly1026=