Canonical Allele Identifier: CA2411007719

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720616A= , CM000684.2:g.50720616A=	GRCh38
NC_000022.10:g.51159044A= , CM000684.1:g.51159044A=	GRCh37
NC_000022.9:g.49505910A=	NCBI36
NG_008607.2:g.51262A=
NG_070230.1:g.56400A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2384A=	ENSP00000489147.2:p.Asp795=
ENST00000414786.7:n.2968A=
ENST00000445220.7:c.1436A=	ENSP00000489407.2:p.Asp479=
ENST00000664402.2:c.926A=	ENSP00000499475.1:p.Asp309=
ENST00000673971.2:c.*1382A=	ENSP00000501192.1:n.*1382A=
ENST00000445220.6:c.1436A=	ENSP00000489407.2:p.Asp479=
ENST00000262795.6:c.2384A=	ENSP00000489147.2:p.Asp795=
ENST00000664402.1:c.926A=	ENSP00000499475.1:p.Asp309=
ENST00000673971.1:c.*1382A=	ENSP00000501192.1:n.*1382A=
ENST00000262795.5:c.2780A=	ENSP00000489147.1:p.Asp927=
ENST00000414786.6:n.2968A=
ENST00000445220.5:c.2762A=	ENSP00000489407.1:p.Asp921=