Canonical Allele Identifier: CA2411007743

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720659C= , CM000684.2:g.50720659C=	GRCh38
NC_000022.10:g.51159087C= , CM000684.1:g.51159087C=	GRCh37
NC_000022.9:g.49505953C=	NCBI36
NG_008607.2:g.51305C=
NG_070230.1:g.56443C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2427C=	ENSP00000489147.2:p.Phe809=
ENST00000414786.7:n.3011C=
ENST00000445220.7:c.1479C=	ENSP00000489407.2:p.Phe493=
ENST00000664402.2:c.969C=	ENSP00000499475.1:p.Phe323=
ENST00000673971.2:c.*1425C=	ENSP00000501192.1:n.*1425C=
ENST00000445220.6:c.1479C=	ENSP00000489407.2:p.Phe493=
ENST00000262795.6:c.2427C=	ENSP00000489147.2:p.Phe809=
ENST00000664402.1:c.969C=	ENSP00000499475.1:p.Phe323=
ENST00000673971.1:c.*1425C=	ENSP00000501192.1:n.*1425C=
ENST00000262795.5:c.2823C=	ENSP00000489147.1:p.Phe941=
ENST00000414786.6:n.3011C=
ENST00000445220.5:c.2805C=	ENSP00000489407.1:p.Phe935=