Canonical Allele Identifier: CA2411008085

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721196C= , CM000684.2:g.50721196C=	GRCh38
NC_000022.10:g.51159624C= , CM000684.1:g.51159624C=	GRCh37
NC_000022.9:g.49506490C=	NCBI36
NG_008607.2:g.51842C=
NG_070230.1:g.56980C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2964C=	ENSP00000489147.2:p.Ser988=
ENST00000414786.7:n.3548C=
ENST00000445220.7:c.2016C=	ENSP00000489407.2:p.Ser672=
ENST00000664402.2:c.1506C=	ENSP00000499475.1:p.Ser502=
ENST00000673971.2:c.*1962C=	ENSP00000501192.1:n.*1962C=
ENST00000445220.6:c.2016C=	ENSP00000489407.2:p.Ser672=
ENST00000262795.6:c.2964C=	ENSP00000489147.2:p.Ser988=
ENST00000664402.1:c.1506C=	ENSP00000499475.1:p.Ser502=
ENST00000673971.1:c.*1962C=	ENSP00000501192.1:n.*1962C=
ENST00000262795.5:c.3360C=	ENSP00000489147.1:p.Ser1120=
ENST00000414786.6:n.3548C=
ENST00000445220.5:c.3342C=	ENSP00000489407.1:p.Ser1114=