Canonical Allele Identifier: CA9212083

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 1040236
• ClinVar RCV Id: RCV001343840
• dbSNP Id: rs765121016
• ExAC: 19:11533430 TCTC / T
• gnomAD v2: 19-11533430-TCTC-T
• gnomAD v3: 19-11422762-TCTC-T
• gnomAD v4: 19-11422762-TCTC-T
• MyVariant Identifiers: chr19:g.11533431_11533433del (hg19) ; chr19:g.11422763_11422765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11422765_11422767del , CM000681.2:g.11422765_11422767del	GRCh38
NC_000019.9:g.11533433_11533435del , CM000681.1:g.11533433_11533435del	GRCh37
NC_000019.8:g.11394433_11394435del	NCBI36
NG_041777.1:g.18018_18020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356392.9:c.1213_1215del MANE Select	ENSP00000348757.3:p.Glu405del
ENST00000356392.8:c.1213_1215del	ENSP00000348757.3:p.Glu405del
ENST00000586836.5:c.640_642del	ENSP00000467429.1:p.Glu214del
ENST00000591179.5:c.1033_1035del	ENSP00000466800.1:p.Glu345del
ENST00000591345.5:c.*1132_*1134del	ENSP00000467313.1:n.*1132_*1134del
NM_001302453.1:c.1051_1053del	NP_001289382.1:p.Glu351del
NM_001302454.1:c.1033_1035del	NP_001289383.1:p.Glu345del
NM_145045.4:c.1213_1215del	NP_659482.3:p.Glu405del
NM_145045.5:c.1213_1215del MANE Select	NP_659482.3:p.Glu405del
NM_001302454.2:c.1033_1035del	NP_001289383.1:p.Glu345del