Canonical Allele Identifier: CA2411008338

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721584_50721597delinsCTGCCCAGCCCCCG , CM000684.2:g.50721584_50721597delinsCTGCCCAGCCCCCG	GRCh38
NC_000022.10:g.51160012_51160025delinsCTGCCCAGCCCCCG , CM000684.1:g.51160012_51160025delinsCTGCCCAGCCCCCG	GRCh37
NC_000022.9:g.49506878_49506891delinsCTGCCCAGCCCCCG	NCBI36
NG_008607.2:g.52230_52243delinsCTGCCCAGCCCCCG
NG_070230.1:g.57368_57381delinsCTGCCCAGCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3352_3365delinsCTGCCCAGCCCCCG	ENSP00000489147.2:p.Leu1118=
ENST00000414786.7:n.3936_3949delinsCTGCCCAGCCCCCG
ENST00000445220.7:c.2404_2417delinsCTGCCCAGCCCCCG	ENSP00000489407.2:p.Leu802=
ENST00000664402.2:c.1894_1907delinsCTGCCCAGCCCCCG	ENSP00000499475.1:p.Leu632=
ENST00000673971.2:c.*2350_*2363delinsCTGCCCAGCCCCCG	ENSP00000501192.1:n.*2350_*2363delinsCTGCCCAGCCCCCG
ENST00000445220.6:c.2404_2417delinsCTGCCCAGCCCCCG	ENSP00000489407.2:p.Leu802=
ENST00000262795.6:c.3352_3365delinsCTGCCCAGCCCCCG	ENSP00000489147.2:p.Leu1118=
ENST00000664402.1:c.1894_1907delinsCTGCCCAGCCCCCG	ENSP00000499475.1:p.Leu632=
ENST00000673971.1:c.*2350_*2363delinsCTGCCCAGCCCCCG	ENSP00000501192.1:n.*2350_*2363delinsCTGCCCAGCCCCCG
ENST00000262795.5:c.3748_3761delinsCTGCCCAGCCCCCG	ENSP00000489147.1:p.Leu1250=
ENST00000414786.6:n.3936_3949delinsCTGCCCAGCCCCCG
ENST00000445220.5:c.3730_3743delinsCTGCCCAGCCCCCG	ENSP00000489407.1:p.Leu1244=