Canonical Allele Identifier: CA2657583390

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720712-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720714del , CM000684.2:g.50720714del	GRCh38
NC_000022.10:g.51159142del , CM000684.1:g.51159142del	GRCh37
NC_000022.9:g.49506008del	NCBI36
NG_008607.2:g.51360del
NG_070230.1:g.56498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2482del	ENSP00000489147.2:p.Glu828ArgfsTer?
ENST00000414786.7:n.3066del
ENST00000445220.7:c.1534del	ENSP00000489407.2:p.Glu512ArgfsTer?
ENST00000664402.2:c.1024del	ENSP00000499475.1:p.Glu342ArgfsTer?
ENST00000673971.2:c.*1480del	ENSP00000501192.1:n.*1480del
ENST00000445220.6:c.1534del	ENSP00000489407.2:p.Glu512ArgfsTer?
ENST00000262795.6:c.2482del	ENSP00000489147.2:p.Glu828ArgfsTer?
ENST00000664402.1:c.1024del	ENSP00000499475.1:p.Glu342ArgfsTer?
ENST00000673971.1:c.*1480del	ENSP00000501192.1:n.*1480del
ENST00000262795.5:c.2878del	ENSP00000489147.1:p.Glu960ArgfsTer?
ENST00000414786.6:n.3066del
ENST00000445220.5:c.2860del	ENSP00000489407.1:p.Glu954ArgfsTer?