Canonical Allele Identifier: CA2411008525

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721903_50721906delinsTGGA , CM000684.2:g.50721903_50721906delinsTGGA	GRCh38
NC_000022.10:g.51160331_51160334delinsTGGA , CM000684.1:g.51160331_51160334delinsTGGA	GRCh37
NC_000022.9:g.49507197_49507200delinsTGGA	NCBI36
NG_008607.2:g.52549_52552delinsTGGA
NG_070230.1:g.57687_57690delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3671_3674delinsTGGA	ENSP00000489147.2:p.Val1224=
ENST00000414786.7:n.4255_4258delinsTGGA
ENST00000445220.7:c.2723_2726delinsTGGA	ENSP00000489407.2:p.Val908=
ENST00000664402.2:c.2213_2216delinsTGGA	ENSP00000499475.1:p.Val738=
ENST00000673971.2:c.*2669_*2672delinsTGGA	ENSP00000501192.1:n.*2669_*2672delinsTGGA
ENST00000445220.6:c.2723_2726delinsTGGA	ENSP00000489407.2:p.Val908=
ENST00000262795.6:c.3671_3674delinsTGGA	ENSP00000489147.2:p.Val1224=
ENST00000664402.1:c.2213_2216delinsTGGA	ENSP00000499475.1:p.Val738=
ENST00000673971.1:c.*2669_*2672delinsTGGA	ENSP00000501192.1:n.*2669_*2672delinsTGGA
ENST00000262795.5:c.4067_4070delinsTGGA	ENSP00000489147.1:p.Val1356=
ENST00000414786.6:n.4255_4258delinsTGGA
ENST00000445220.5:c.4049_4052delinsTGGA	ENSP00000489407.1:p.Val1350=