Canonical Allele Identifier: CA2411007702

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720588A= , CM000684.2:g.50720588A=	GRCh38
NC_000022.10:g.51159016A= , CM000684.1:g.51159016A=	GRCh37
NC_000022.9:g.49505882A=	NCBI36
NG_008607.2:g.51234A=
NG_070230.1:g.56372A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2356A=	ENSP00000489147.2:p.Lys786=
ENST00000414786.7:n.2940A=
ENST00000445220.7:c.1408A=	ENSP00000489407.2:p.Lys470=
ENST00000664402.2:c.898A=	ENSP00000499475.1:p.Lys300=
ENST00000673971.2:c.*1354A=	ENSP00000501192.1:n.*1354A=
ENST00000445220.6:c.1408A=	ENSP00000489407.2:p.Lys470=
ENST00000262795.6:c.2356A=	ENSP00000489147.2:p.Lys786=
ENST00000664402.1:c.898A=	ENSP00000499475.1:p.Lys300=
ENST00000673971.1:c.*1354A=	ENSP00000501192.1:n.*1354A=
ENST00000262795.5:c.2752A=	ENSP00000489147.1:p.Lys918=
ENST00000414786.6:n.2940A=
ENST00000445220.5:c.2734A=	ENSP00000489407.1:p.Lys912=