Canonical Allele Identifier: CA2580610992
Community Standard Title: NM_001382637.1(OTUD7A):c.1146del (p.Glu382AspfsTer11)
Gene: OTUD7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31501716del , CM000677.2:g.31501716del GRCh38
NC_000015.9:g.31793919del , CM000677.1:g.31793919del GRCh37
NC_000015.8:g.29581211del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001382637.1:c.1146del MANE Select NP_001369566.1:p.Glu382AspfsTer11
ENST00000307050.6:c.1146del MANE Select ENSP00000305926.5:p.Glu382AspfsTer11
NM_001329907.1:c.1146del NP_001316836.1:p.Glu382AspfsTer22
NM_001329907.2:c.1146del NP_001316836.1:p.Glu382AspfsTer22
NM_130901.1:c.1125del NP_570971.1:p.Glu375AspfsTer11
NM_130901.2:c.1125del NP_570971.1:p.Glu375AspfsTer11
NM_130901.3:c.1125del NP_570971.1:p.Glu375AspfsTer11
ENST00000307050.5:c.1125del ENSP00000305926.4:p.Glu375AspfsTer11
ENST00000560598.2:c.1125del ENSP00000453883.2:p.Glu375AspfsTer11
ENST00000678495.1:c.1125del ENSP00000503326.1:p.Glu375AspfsTer11
XM_011521287.1:c.1407del XP_011519589.1:p.Glu469AspfsTer11