Canonical Allele Identifier: CA2411007766

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720696G= , CM000684.2:g.50720696G=	GRCh38
NC_000022.10:g.51159124G= , CM000684.1:g.51159124G=	GRCh37
NC_000022.9:g.49505990G=	NCBI36
NG_008607.2:g.51342G=
NG_070230.1:g.56480G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2464G=	ENSP00000489147.2:p.Val822=
ENST00000414786.7:n.3048G=
ENST00000445220.7:c.1516G=	ENSP00000489407.2:p.Val506=
ENST00000664402.2:c.1006G=	ENSP00000499475.1:p.Val336=
ENST00000673971.2:c.*1462G=	ENSP00000501192.1:n.*1462G=
ENST00000445220.6:c.1516G=	ENSP00000489407.2:p.Val506=
ENST00000262795.6:c.2464G=	ENSP00000489147.2:p.Val822=
ENST00000664402.1:c.1006G=	ENSP00000499475.1:p.Val336=
ENST00000673971.1:c.*1462G=	ENSP00000501192.1:n.*1462G=
ENST00000262795.5:c.2860G=	ENSP00000489147.1:p.Val954=
ENST00000414786.6:n.3048G=
ENST00000445220.5:c.2842G=	ENSP00000489407.1:p.Val948=