Canonical Allele Identifier: CA2411008516

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721888C= , CM000684.2:g.50721888C=	GRCh38
NC_000022.10:g.51160316C= , CM000684.1:g.51160316C=	GRCh37
NC_000022.9:g.49507182C=	NCBI36
NG_008607.2:g.52534C=
NG_070230.1:g.57672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3656C=	ENSP00000489147.2:p.Ala1219=
ENST00000414786.7:n.4240C=
ENST00000445220.7:c.2708C=	ENSP00000489407.2:p.Ala903=
ENST00000664402.2:c.2198C=	ENSP00000499475.1:p.Ala733=
ENST00000673971.2:c.*2654C=	ENSP00000501192.1:n.*2654C=
ENST00000445220.6:c.2708C=	ENSP00000489407.2:p.Ala903=
ENST00000262795.6:c.3656C=	ENSP00000489147.2:p.Ala1219=
ENST00000664402.1:c.2198C=	ENSP00000499475.1:p.Ala733=
ENST00000673971.1:c.*2654C=	ENSP00000501192.1:n.*2654C=
ENST00000262795.5:c.4052C=	ENSP00000489147.1:p.Ala1351=
ENST00000414786.6:n.4240C=
ENST00000445220.5:c.4034C=	ENSP00000489407.1:p.Ala1345=