Canonical Allele Identifier: CA2411008522

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721897_50721899delinsCTG , CM000684.2:g.50721897_50721899delinsCTG	GRCh38
NC_000022.10:g.51160325_51160327delinsCTG , CM000684.1:g.51160325_51160327delinsCTG	GRCh37
NC_000022.9:g.49507191_49507193delinsCTG	NCBI36
NG_008607.2:g.52543_52545delinsCTG
NG_070230.1:g.57681_57683delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3665_3667delinsCTG	ENSP00000489147.2:p.Ser1222=
ENST00000414786.7:n.4249_4251delinsCTG
ENST00000445220.7:c.2717_2719delinsCTG	ENSP00000489407.2:p.Ser906=
ENST00000664402.2:c.2207_2209delinsCTG	ENSP00000499475.1:p.Ser736=
ENST00000673971.2:c.*2663_*2665delinsCTG	ENSP00000501192.1:n.*2663_*2665delinsCTG
ENST00000445220.6:c.2717_2719delinsCTG	ENSP00000489407.2:p.Ser906=
ENST00000262795.6:c.3665_3667delinsCTG	ENSP00000489147.2:p.Ser1222=
ENST00000664402.1:c.2207_2209delinsCTG	ENSP00000499475.1:p.Ser736=
ENST00000673971.1:c.*2663_*2665delinsCTG	ENSP00000501192.1:n.*2663_*2665delinsCTG
ENST00000262795.5:c.4061_4063delinsCTG	ENSP00000489147.1:p.Ser1354=
ENST00000414786.6:n.4249_4251delinsCTG
ENST00000445220.5:c.4043_4045delinsCTG	ENSP00000489407.1:p.Ser1348=