Canonical Allele Identifier: CA2411007941

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720959G= , CM000684.2:g.50720959G=	GRCh38
NC_000022.10:g.51159387G= , CM000684.1:g.51159387G=	GRCh37
NC_000022.9:g.49506253G=	NCBI36
NG_008607.2:g.51605G=
NG_070230.1:g.56743G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2727G=	ENSP00000489147.2:p.Ala909=
ENST00000414786.7:n.3311G=
ENST00000445220.7:c.1779G=	ENSP00000489407.2:p.Ala593=
ENST00000664402.2:c.1269G=	ENSP00000499475.1:p.Ala423=
ENST00000673971.2:c.*1725G=	ENSP00000501192.1:n.*1725G=
ENST00000445220.6:c.1779G=	ENSP00000489407.2:p.Ala593=
ENST00000262795.6:c.2727G=	ENSP00000489147.2:p.Ala909=
ENST00000664402.1:c.1269G=	ENSP00000499475.1:p.Ala423=
ENST00000673971.1:c.*1725G=	ENSP00000501192.1:n.*1725G=
ENST00000262795.5:c.3123G=	ENSP00000489147.1:p.Ala1041=
ENST00000414786.6:n.3311G=
ENST00000445220.5:c.3105G=	ENSP00000489407.1:p.Ala1035=