Canonical Allele Identifier: CA2411008242

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721444A= , CM000684.2:g.50721444A=	GRCh38
NC_000022.10:g.51159872A= , CM000684.1:g.51159872A=	GRCh37
NC_000022.9:g.49506738A=	NCBI36
NG_008607.2:g.52090A=
NG_070230.1:g.57228A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3212A=	ENSP00000489147.2:p.Gln1071=
ENST00000414786.7:n.3796A=
ENST00000445220.7:c.2264A=	ENSP00000489407.2:p.Gln755=
ENST00000664402.2:c.1754A=	ENSP00000499475.1:p.Gln585=
ENST00000673971.2:c.*2210A=	ENSP00000501192.1:n.*2210A=
ENST00000445220.6:c.2264A=	ENSP00000489407.2:p.Gln755=
ENST00000262795.6:c.3212A=	ENSP00000489147.2:p.Gln1071=
ENST00000664402.1:c.1754A=	ENSP00000499475.1:p.Gln585=
ENST00000673971.1:c.*2210A=	ENSP00000501192.1:n.*2210A=
ENST00000262795.5:c.3608A=	ENSP00000489147.1:p.Gln1203=
ENST00000414786.6:n.3796A=
ENST00000445220.5:c.3590A=	ENSP00000489407.1:p.Gln1197=