Canonical Allele Identifier: CA2411008066

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721166C= , CM000684.2:g.50721166C=	GRCh38
NC_000022.10:g.51159594C= , CM000684.1:g.51159594C=	GRCh37
NC_000022.9:g.49506460C=	NCBI36
NG_008607.2:g.51812C=
NG_070230.1:g.56950C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2934C=	ENSP00000489147.2:p.Ala978=
ENST00000414786.7:n.3518C=
ENST00000445220.7:c.1986C=	ENSP00000489407.2:p.Ala662=
ENST00000664402.2:c.1476C=	ENSP00000499475.1:p.Ala492=
ENST00000673971.2:c.*1932C=	ENSP00000501192.1:n.*1932C=
ENST00000445220.6:c.1986C=	ENSP00000489407.2:p.Ala662=
ENST00000262795.6:c.2934C=	ENSP00000489147.2:p.Ala978=
ENST00000664402.1:c.1476C=	ENSP00000499475.1:p.Ala492=
ENST00000673971.1:c.*1932C=	ENSP00000501192.1:n.*1932C=
ENST00000262795.5:c.3330C=	ENSP00000489147.1:p.Ala1110=
ENST00000414786.6:n.3518C=
ENST00000445220.5:c.3312C=	ENSP00000489407.1:p.Ala1104=