Canonical Allele Identifier: CA9212208

Gene: ODAD3

Linked Data

• ClinVar Variation Id: 2144627
• ClinVar RCV Id: RCV003063029
• dbSNP Id: rs750011384
• ExAC: 19:11536996 TCTC / T
• gnomAD v2: 19-11536996-TCTC-T
• gnomAD v3: 19-11426176-TCTC-T
• gnomAD v4: 19-11426176-TCTC-T
• MyVariant Identifiers: chr19:g.11536997_11536999del (hg19) ; chr19:g.11426177_11426179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11426180_11426182del , CM000681.2:g.11426180_11426182del	GRCh38
NC_000019.9:g.11537000_11537002del , CM000681.1:g.11537000_11537002del	GRCh37
NC_000019.8:g.11398000_11398002del	NCBI36
NG_041777.1:g.14604_14606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356392.9:c.928_930del MANE Select	ENSP00000348757.3:p.Glu310del
ENST00000356392.8:c.928_930del	ENSP00000348757.3:p.Glu310del
ENST00000586836.5:c.355_357del	ENSP00000467429.1:p.Glu119del
ENST00000591179.5:c.748_750del	ENSP00000466800.1:p.Glu250del
ENST00000591345.5:c.*847_*849del	ENSP00000467313.1:n.*847_*849del
NM_001302453.1:c.766_768del	NP_001289382.1:p.Glu256del
NM_001302454.1:c.748_750del	NP_001289383.1:p.Glu250del
NM_145045.4:c.928_930del	NP_659482.3:p.Glu310del
XM_017026241.1:c.904+24_904+26del	XP_016881730.1:n.904+24_904+26del
NM_145045.5:c.928_930del MANE Select	NP_659482.3:p.Glu310del
NM_001302454.2:c.748_750del	NP_001289383.1:p.Glu250del