Canonical Allele Identifier: CA2411008696

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722235C= , CM000684.2:g.50722235C=	GRCh38
NC_000022.10:g.51160663C= , CM000684.1:g.51160663C=	GRCh37
NC_000022.9:g.49507529C=	NCBI36
NG_008607.2:g.52881C=
NG_070230.1:g.58019C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4003C=	ENSP00000489147.2:p.Gln1335=
ENST00000414786.7:n.4587C=
ENST00000445220.7:c.3055C=	ENSP00000489407.2:p.Gln1019=
ENST00000664402.2:c.2545C=	ENSP00000499475.1:p.Gln849=
ENST00000673971.2:c.*3001C=	ENSP00000501192.1:n.*3001C=
ENST00000445220.6:c.3055C=	ENSP00000489407.2:p.Gln1019=
ENST00000262795.6:c.4003C=	ENSP00000489147.2:p.Gln1335=
ENST00000664402.1:c.2545C=	ENSP00000499475.1:p.Gln849=
ENST00000673971.1:c.*3001C=	ENSP00000501192.1:n.*3001C=
ENST00000262795.5:c.4399C=	ENSP00000489147.1:p.Gln1467=
ENST00000414786.6:n.4587C=
ENST00000445220.5:c.4381C=	ENSP00000489407.1:p.Gln1461=