Canonical Allele Identifier: CA2411008531

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721914_50721916delinsGAC , CM000684.2:g.50721914_50721916delinsGAC	GRCh38
NC_000022.10:g.51160342_51160344delinsGAC , CM000684.1:g.51160342_51160344delinsGAC	GRCh37
NC_000022.9:g.49507208_49507210delinsGAC	NCBI36
NG_008607.2:g.52560_52562delinsGAC
NG_070230.1:g.57698_57700delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3682_3684delinsGAC	ENSP00000489147.2:p.Asp1228=
ENST00000414786.7:n.4266_4268delinsGAC
ENST00000445220.7:c.2734_2736delinsGAC	ENSP00000489407.2:p.Asp912=
ENST00000664402.2:c.2224_2226delinsGAC	ENSP00000499475.1:p.Asp742=
ENST00000673971.2:c.*2680_*2682delinsGAC	ENSP00000501192.1:n.*2680_*2682delinsGAC
ENST00000445220.6:c.2734_2736delinsGAC	ENSP00000489407.2:p.Asp912=
ENST00000262795.6:c.3682_3684delinsGAC	ENSP00000489147.2:p.Asp1228=
ENST00000664402.1:c.2224_2226delinsGAC	ENSP00000499475.1:p.Asp742=
ENST00000673971.1:c.*2680_*2682delinsGAC	ENSP00000501192.1:n.*2680_*2682delinsGAC
ENST00000262795.5:c.4078_4080delinsGAC	ENSP00000489147.1:p.Asp1360=
ENST00000414786.6:n.4266_4268delinsGAC
ENST00000445220.5:c.4060_4062delinsGAC	ENSP00000489407.1:p.Asp1354=