Canonical Allele Identifier: CA2411008079

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721183G= , CM000684.2:g.50721183G=	GRCh38
NC_000022.10:g.51159611G= , CM000684.1:g.51159611G=	GRCh37
NC_000022.9:g.49506477G=	NCBI36
NG_008607.2:g.51829G=
NG_070230.1:g.56967G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2951G=	ENSP00000489147.2:p.Arg984=
ENST00000414786.7:n.3535G=
ENST00000445220.7:c.2003G=	ENSP00000489407.2:p.Arg668=
ENST00000664402.2:c.1493G=	ENSP00000499475.1:p.Arg498=
ENST00000673971.2:c.*1949G=	ENSP00000501192.1:n.*1949G=
ENST00000445220.6:c.2003G=	ENSP00000489407.2:p.Arg668=
ENST00000262795.6:c.2951G=	ENSP00000489147.2:p.Arg984=
ENST00000664402.1:c.1493G=	ENSP00000499475.1:p.Arg498=
ENST00000673971.1:c.*1949G=	ENSP00000501192.1:n.*1949G=
ENST00000262795.5:c.3347G=	ENSP00000489147.1:p.Arg1116=
ENST00000414786.6:n.3535G=
ENST00000445220.5:c.3329G=	ENSP00000489407.1:p.Arg1110=