Canonical Allele Identifier: CA2657583419

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720894-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720895del , CM000684.2:g.50720895del	GRCh38
NC_000022.10:g.51159323del , CM000684.1:g.51159323del	GRCh37
NC_000022.9:g.49506189del	NCBI36
NG_008607.2:g.51541del
NG_070230.1:g.56679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2663del	ENSP00000489147.2:p.Glu888GlyfsTer?
ENST00000414786.7:n.3247del
ENST00000445220.7:c.1715del	ENSP00000489407.2:p.Glu572GlyfsTer?
ENST00000664402.2:c.1205del	ENSP00000499475.1:p.Glu402GlyfsTer?
ENST00000673971.2:c.*1661del	ENSP00000501192.1:n.*1661del
ENST00000445220.6:c.1715del	ENSP00000489407.2:p.Glu572GlyfsTer?
ENST00000262795.6:c.2663del	ENSP00000489147.2:p.Glu888GlyfsTer?
ENST00000664402.1:c.1205del	ENSP00000499475.1:p.Glu402GlyfsTer?
ENST00000673971.1:c.*1661del	ENSP00000501192.1:n.*1661del
ENST00000262795.5:c.3059del	ENSP00000489147.1:p.Glu1020GlyfsTer?
ENST00000414786.6:n.3247del
ENST00000445220.5:c.3041del	ENSP00000489407.1:p.Glu1014GlyfsTer?