Canonical Allele Identifier: CA2411007616

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720433C= , CM000684.2:g.50720433C=	GRCh38
NC_000022.10:g.51158861C= , CM000684.1:g.51158861C=	GRCh37
NC_000022.9:g.49505727C=	NCBI36
NG_008607.2:g.51079C=
NG_070230.1:g.56217C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2201C=	ENSP00000489147.2:p.Ala734=
ENST00000414786.7:n.2785C=
ENST00000445220.7:c.1253C=	ENSP00000489407.2:p.Ala418=
ENST00000664402.2:c.743C=	ENSP00000499475.1:p.Ala248=
ENST00000673971.2:c.*1199C=	ENSP00000501192.1:n.*1199C=
ENST00000445220.6:c.1253C=	ENSP00000489407.2:p.Ala418=
ENST00000262795.6:c.2201C=	ENSP00000489147.2:p.Ala734=
ENST00000664402.1:c.743C=	ENSP00000499475.1:p.Ala248=
ENST00000673971.1:c.*1199C=	ENSP00000501192.1:n.*1199C=
ENST00000262795.5:c.2597C=	ENSP00000489147.1:p.Ala866=
ENST00000414786.6:n.2785C=
ENST00000445220.5:c.2579C=	ENSP00000489407.1:p.Ala860=