Canonical Allele Identifier: CA2411008708

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722266T= , CM000684.2:g.50722266T=	GRCh38
NC_000022.10:g.51160694T= , CM000684.1:g.51160694T=	GRCh37
NC_000022.9:g.49507560T=	NCBI36
NG_008607.2:g.52912T=
NG_070230.1:g.58050T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4034T=	ENSP00000489147.2:p.Val1345=
ENST00000414786.7:n.4618T=
ENST00000445220.7:c.3086T=	ENSP00000489407.2:p.Val1029=
ENST00000664402.2:c.2576T=	ENSP00000499475.1:p.Val859=
ENST00000673971.2:c.*3032T=	ENSP00000501192.1:n.*3032T=
ENST00000445220.6:c.3086T=	ENSP00000489407.2:p.Val1029=
ENST00000262795.6:c.4034T=	ENSP00000489147.2:p.Val1345=
ENST00000664402.1:c.2576T=	ENSP00000499475.1:p.Val859=
ENST00000673971.1:c.*3032T=	ENSP00000501192.1:n.*3032T=
ENST00000262795.5:c.4430T=	ENSP00000489147.1:p.Val1477=
ENST00000414786.6:n.4618T=
ENST00000445220.5:c.4412T=	ENSP00000489407.1:p.Val1471=