Canonical Allele Identifier: CA2411008250

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721454T= , CM000684.2:g.50721454T=	GRCh38
NC_000022.10:g.51159882T= , CM000684.1:g.51159882T=	GRCh37
NC_000022.9:g.49506748T=	NCBI36
NG_008607.2:g.52100T=
NG_070230.1:g.57238T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3222T=	ENSP00000489147.2:p.Ala1074=
ENST00000414786.7:n.3806T=
ENST00000445220.7:c.2274T=	ENSP00000489407.2:p.Ala758=
ENST00000664402.2:c.1764T=	ENSP00000499475.1:p.Ala588=
ENST00000673971.2:c.*2220T=	ENSP00000501192.1:n.*2220T=
ENST00000445220.6:c.2274T=	ENSP00000489407.2:p.Ala758=
ENST00000262795.6:c.3222T=	ENSP00000489147.2:p.Ala1074=
ENST00000664402.1:c.1764T=	ENSP00000499475.1:p.Ala588=
ENST00000673971.1:c.*2220T=	ENSP00000501192.1:n.*2220T=
ENST00000262795.5:c.3618T=	ENSP00000489147.1:p.Ala1206=
ENST00000414786.6:n.3806T=
ENST00000445220.5:c.3600T=	ENSP00000489407.1:p.Ala1200=