Canonical Allele Identifier: CA2411008082

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721192C= , CM000684.2:g.50721192C=	GRCh38
NC_000022.10:g.51159620C= , CM000684.1:g.51159620C=	GRCh37
NC_000022.9:g.49506486C=	NCBI36
NG_008607.2:g.51838C=
NG_070230.1:g.56976C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2960C=	ENSP00000489147.2:p.Ala987=
ENST00000414786.7:n.3544C=
ENST00000445220.7:c.2012C=	ENSP00000489407.2:p.Ala671=
ENST00000664402.2:c.1502C=	ENSP00000499475.1:p.Ala501=
ENST00000673971.2:c.*1958C=	ENSP00000501192.1:n.*1958C=
ENST00000445220.6:c.2012C=	ENSP00000489407.2:p.Ala671=
ENST00000262795.6:c.2960C=	ENSP00000489147.2:p.Ala987=
ENST00000664402.1:c.1502C=	ENSP00000499475.1:p.Ala501=
ENST00000673971.1:c.*1958C=	ENSP00000501192.1:n.*1958C=
ENST00000262795.5:c.3356C=	ENSP00000489147.1:p.Ala1119=
ENST00000414786.6:n.3544C=
ENST00000445220.5:c.3338C=	ENSP00000489407.1:p.Ala1113=