Canonical Allele Identifier: CA2657583406

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720780-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720781del , CM000684.2:g.50720781del	GRCh38
NC_000022.10:g.51159209del , CM000684.1:g.51159209del	GRCh37
NC_000022.9:g.49506075del	NCBI36
NG_008607.2:g.51427del
NG_070230.1:g.56565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2549del	ENSP00000489147.2:p.Arg850ProfsTer?
ENST00000414786.7:n.3133del
ENST00000445220.7:c.1601del	ENSP00000489407.2:p.Arg534ProfsTer?
ENST00000664402.2:c.1091del	ENSP00000499475.1:p.Arg364ProfsTer?
ENST00000673971.2:c.*1547del	ENSP00000501192.1:n.*1547del
ENST00000445220.6:c.1601del	ENSP00000489407.2:p.Arg534ProfsTer?
ENST00000262795.6:c.2549del	ENSP00000489147.2:p.Arg850ProfsTer?
ENST00000664402.1:c.1091del	ENSP00000499475.1:p.Arg364ProfsTer?
ENST00000673971.1:c.*1547del	ENSP00000501192.1:n.*1547del
ENST00000262795.5:c.2945del	ENSP00000489147.1:p.Arg982ProfsTer?
ENST00000414786.6:n.3133del
ENST00000445220.5:c.2927del	ENSP00000489407.1:p.Arg976ProfsTer?