Canonical Allele Identifier: CA2411007749

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720670A= , CM000684.2:g.50720670A=	GRCh38
NC_000022.10:g.51159098A= , CM000684.1:g.51159098A=	GRCh37
NC_000022.9:g.49505964A=	NCBI36
NG_008607.2:g.51316A=
NG_070230.1:g.56454A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2438A=	ENSP00000489147.2:p.Lys813=
ENST00000414786.7:n.3022A=
ENST00000445220.7:c.1490A=	ENSP00000489407.2:p.Lys497=
ENST00000664402.2:c.980A=	ENSP00000499475.1:p.Lys327=
ENST00000673971.2:c.*1436A=	ENSP00000501192.1:n.*1436A=
ENST00000445220.6:c.1490A=	ENSP00000489407.2:p.Lys497=
ENST00000262795.6:c.2438A=	ENSP00000489147.2:p.Lys813=
ENST00000664402.1:c.980A=	ENSP00000499475.1:p.Lys327=
ENST00000673971.1:c.*1436A=	ENSP00000501192.1:n.*1436A=
ENST00000262795.5:c.2834A=	ENSP00000489147.1:p.Lys945=
ENST00000414786.6:n.3022A=
ENST00000445220.5:c.2816A=	ENSP00000489407.1:p.Lys939=