Canonical Allele Identifier: CA2411007921

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720932G= , CM000684.2:g.50720932G=	GRCh38
NC_000022.10:g.51159360G= , CM000684.1:g.51159360G=	GRCh37
NC_000022.9:g.49506226G=	NCBI36
NG_008607.2:g.51578G=
NG_070230.1:g.56716G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2700G=	ENSP00000489147.2:p.Gly900=
ENST00000414786.7:n.3284G=
ENST00000445220.7:c.1752G=	ENSP00000489407.2:p.Gly584=
ENST00000664402.2:c.1242G=	ENSP00000499475.1:p.Gly414=
ENST00000673971.2:c.*1698G=	ENSP00000501192.1:n.*1698G=
ENST00000445220.6:c.1752G=	ENSP00000489407.2:p.Gly584=
ENST00000262795.6:c.2700G=	ENSP00000489147.2:p.Gly900=
ENST00000664402.1:c.1242G=	ENSP00000499475.1:p.Gly414=
ENST00000673971.1:c.*1698G=	ENSP00000501192.1:n.*1698G=
ENST00000262795.5:c.3096G=	ENSP00000489147.1:p.Gly1032=
ENST00000414786.6:n.3284G=
ENST00000445220.5:c.3078G=	ENSP00000489407.1:p.Gly1026=