Canonical Allele Identifier: CA1139667204

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 978860
• ClinVar RCV Id: RCV001257630
• dbSNP Id: rs2083280269
• gnomAD v4: 22-50720928-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720933del , CM000684.2:g.50720933del	GRCh38
NC_000022.10:g.51159361del , CM000684.1:g.51159361del	GRCh37
NC_000022.9:g.49506227del	NCBI36
NG_008607.2:g.51579del
NG_070230.1:g.56717del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2701del	ENSP00000489147.2:p.Ala901ProfsTer?
ENST00000414786.7:n.3285del
ENST00000445220.7:c.1753del	ENSP00000489407.2:p.Ala585ProfsTer?
ENST00000664402.2:c.1243del	ENSP00000499475.1:p.Ala415ProfsTer?
ENST00000673971.2:c.*1699del	ENSP00000501192.1:n.*1699del
ENST00000445220.6:c.1753del	ENSP00000489407.2:p.Ala585ProfsTer?
ENST00000262795.6:c.2701del	ENSP00000489147.2:p.Ala901ProfsTer?
ENST00000664402.1:c.1243del	ENSP00000499475.1:p.Ala415ProfsTer?
ENST00000673971.1:c.*1699del	ENSP00000501192.1:n.*1699del
ENST00000262795.5:c.3097del	ENSP00000489147.1:p.Ala1033ProfsTer?
ENST00000414786.6:n.3285del
ENST00000445220.5:c.3079del	ENSP00000489407.1:p.Ala1027ProfsTer?