Canonical Allele Identifier: CA2411008083

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721193C= , CM000684.2:g.50721193C=	GRCh38
NC_000022.10:g.51159621C= , CM000684.1:g.51159621C=	GRCh37
NC_000022.9:g.49506487C=	NCBI36
NG_008607.2:g.51839C=
NG_070230.1:g.56977C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2961C=	ENSP00000489147.2:p.Ala987=
ENST00000414786.7:n.3545C=
ENST00000445220.7:c.2013C=	ENSP00000489407.2:p.Ala671=
ENST00000664402.2:c.1503C=	ENSP00000499475.1:p.Ala501=
ENST00000673971.2:c.*1959C=	ENSP00000501192.1:n.*1959C=
ENST00000445220.6:c.2013C=	ENSP00000489407.2:p.Ala671=
ENST00000262795.6:c.2961C=	ENSP00000489147.2:p.Ala987=
ENST00000664402.1:c.1503C=	ENSP00000499475.1:p.Ala501=
ENST00000673971.1:c.*1959C=	ENSP00000501192.1:n.*1959C=
ENST00000262795.5:c.3357C=	ENSP00000489147.1:p.Ala1119=
ENST00000414786.6:n.3545C=
ENST00000445220.5:c.3339C=	ENSP00000489407.1:p.Ala1113=