Canonical Allele Identifier: CA2411008244

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721447G= , CM000684.2:g.50721447G=	GRCh38
NC_000022.10:g.51159875G= , CM000684.1:g.51159875G=	GRCh37
NC_000022.9:g.49506741G=	NCBI36
NG_008607.2:g.52093G=
NG_070230.1:g.57231G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3215G=	ENSP00000489147.2:p.Arg1072=
ENST00000414786.7:n.3799G=
ENST00000445220.7:c.2267G=	ENSP00000489407.2:p.Arg756=
ENST00000664402.2:c.1757G=	ENSP00000499475.1:p.Arg586=
ENST00000673971.2:c.*2213G=	ENSP00000501192.1:n.*2213G=
ENST00000445220.6:c.2267G=	ENSP00000489407.2:p.Arg756=
ENST00000262795.6:c.3215G=	ENSP00000489147.2:p.Arg1072=
ENST00000664402.1:c.1757G=	ENSP00000499475.1:p.Arg586=
ENST00000673971.1:c.*2213G=	ENSP00000501192.1:n.*2213G=
ENST00000262795.5:c.3611G=	ENSP00000489147.1:p.Arg1204=
ENST00000414786.6:n.3799G=
ENST00000445220.5:c.3593G=	ENSP00000489407.1:p.Arg1198=