Canonical Allele Identifier: CA2411008004

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721053G= , CM000684.2:g.50721053G=	GRCh38
NC_000022.10:g.51159481G= , CM000684.1:g.51159481G=	GRCh37
NC_000022.9:g.49506347G=	NCBI36
NG_008607.2:g.51699G=
NG_070230.1:g.56837G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2821G=	ENSP00000489147.2:p.Val941=
ENST00000414786.7:n.3405G=
ENST00000445220.7:c.1873G=	ENSP00000489407.2:p.Val625=
ENST00000664402.2:c.1363G=	ENSP00000499475.1:p.Val455=
ENST00000673971.2:c.*1819G=	ENSP00000501192.1:n.*1819G=
ENST00000445220.6:c.1873G=	ENSP00000489407.2:p.Val625=
ENST00000262795.6:c.2821G=	ENSP00000489147.2:p.Val941=
ENST00000664402.1:c.1363G=	ENSP00000499475.1:p.Val455=
ENST00000673971.1:c.*1819G=	ENSP00000501192.1:n.*1819G=
ENST00000262795.5:c.3217G=	ENSP00000489147.1:p.Val1073=
ENST00000414786.6:n.3405G=
ENST00000445220.5:c.3199G=	ENSP00000489407.1:p.Val1067=