Canonical Allele Identifier: CA2411007740

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720654C= , CM000684.2:g.50720654C=	GRCh38
NC_000022.10:g.51159082C= , CM000684.1:g.51159082C=	GRCh37
NC_000022.9:g.49505948C=	NCBI36
NG_008607.2:g.51300C=
NG_070230.1:g.56438C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2422C=	ENSP00000489147.2:p.Leu808=
ENST00000414786.7:n.3006C=
ENST00000445220.7:c.1474C=	ENSP00000489407.2:p.Leu492=
ENST00000664402.2:c.964C=	ENSP00000499475.1:p.Leu322=
ENST00000673971.2:c.*1420C=	ENSP00000501192.1:n.*1420C=
ENST00000445220.6:c.1474C=	ENSP00000489407.2:p.Leu492=
ENST00000262795.6:c.2422C=	ENSP00000489147.2:p.Leu808=
ENST00000664402.1:c.964C=	ENSP00000499475.1:p.Leu322=
ENST00000673971.1:c.*1420C=	ENSP00000501192.1:n.*1420C=
ENST00000262795.5:c.2818C=	ENSP00000489147.1:p.Leu940=
ENST00000414786.6:n.3006C=
ENST00000445220.5:c.2800C=	ENSP00000489407.1:p.Leu934=