Canonical Allele Identifier: CA2657583387

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720706-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720707del , CM000684.2:g.50720707del	GRCh38
NC_000022.10:g.51159135del , CM000684.1:g.51159135del	GRCh37
NC_000022.9:g.49506001del	NCBI36
NG_008607.2:g.51353del
NG_070230.1:g.56491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2475del	ENSP00000489147.2:p.Gln826ArgfsTer?
ENST00000414786.7:n.3059del
ENST00000445220.7:c.1527del	ENSP00000489407.2:p.Gln510ArgfsTer?
ENST00000664402.2:c.1017del	ENSP00000499475.1:p.Gln340ArgfsTer?
ENST00000673971.2:c.*1473del	ENSP00000501192.1:n.*1473del
ENST00000445220.6:c.1527del	ENSP00000489407.2:p.Gln510ArgfsTer?
ENST00000262795.6:c.2475del	ENSP00000489147.2:p.Gln826ArgfsTer?
ENST00000664402.1:c.1017del	ENSP00000499475.1:p.Gln340ArgfsTer?
ENST00000673971.1:c.*1473del	ENSP00000501192.1:n.*1473del
ENST00000262795.5:c.2871del	ENSP00000489147.1:p.Gln958ArgfsTer?
ENST00000414786.6:n.3059del
ENST00000445220.5:c.2853del	ENSP00000489407.1:p.Gln952ArgfsTer?