Canonical Allele Identifier: CA2411008532

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721916C= , CM000684.2:g.50721916C=	GRCh38
NC_000022.10:g.51160344C= , CM000684.1:g.51160344C=	GRCh37
NC_000022.9:g.49507210C=	NCBI36
NG_008607.2:g.52562C=
NG_070230.1:g.57700C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3684C=	ENSP00000489147.2:p.Asp1228=
ENST00000414786.7:n.4268C=
ENST00000445220.7:c.2736C=	ENSP00000489407.2:p.Asp912=
ENST00000664402.2:c.2226C=	ENSP00000499475.1:p.Asp742=
ENST00000673971.2:c.*2682C=	ENSP00000501192.1:n.*2682C=
ENST00000445220.6:c.2736C=	ENSP00000489407.2:p.Asp912=
ENST00000262795.6:c.3684C=	ENSP00000489147.2:p.Asp1228=
ENST00000664402.1:c.2226C=	ENSP00000499475.1:p.Asp742=
ENST00000673971.1:c.*2682C=	ENSP00000501192.1:n.*2682C=
ENST00000262795.5:c.4080C=	ENSP00000489147.1:p.Asp1360=
ENST00000414786.6:n.4268C=
ENST00000445220.5:c.4062C=	ENSP00000489407.1:p.Asp1354=