Canonical Allele Identifier: CA2411007767

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720698G= , CM000684.2:g.50720698G=	GRCh38
NC_000022.10:g.51159126G= , CM000684.1:g.51159126G=	GRCh37
NC_000022.9:g.49505992G=	NCBI36
NG_008607.2:g.51344G=
NG_070230.1:g.56482G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2466G=	ENSP00000489147.2:p.Val822=
ENST00000414786.7:n.3050G=
ENST00000445220.7:c.1518G=	ENSP00000489407.2:p.Val506=
ENST00000664402.2:c.1008G=	ENSP00000499475.1:p.Val336=
ENST00000673971.2:c.*1464G=	ENSP00000501192.1:n.*1464G=
ENST00000445220.6:c.1518G=	ENSP00000489407.2:p.Val506=
ENST00000262795.6:c.2466G=	ENSP00000489147.2:p.Val822=
ENST00000664402.1:c.1008G=	ENSP00000499475.1:p.Val336=
ENST00000673971.1:c.*1464G=	ENSP00000501192.1:n.*1464G=
ENST00000262795.5:c.2862G=	ENSP00000489147.1:p.Val954=
ENST00000414786.6:n.3050G=
ENST00000445220.5:c.2844G=	ENSP00000489407.1:p.Val948=