Canonical Allele Identifier: CA2635320326
Gene: PAFAH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2666080del , CM000679.2:g.2666080del GRCh38
NC_000017.10:g.2569374del , CM000679.1:g.2569374del GRCh37
NC_000017.9:g.2516124del NCBI36
NG_009799.1:g.77452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.182del MANE Select ENSP00000380378.4:p.Leu61TyrfsTer8
ENST00000674608.1:c.236del ENSP00000501976.1:p.Leu79TyrfsTer8
ENST00000674717.1:c.-3-912del ENSP00000501931.1:n.-3-912del
ENST00000675202.1:c.182del ENSP00000502843.1:p.Leu61TyrfsTer8
ENST00000675331.1:c.182del ENSP00000502031.1:p.Leu61TyrfsTer8
ENST00000675390.1:c.182del ENSP00000501969.1:p.Leu61TyrfsTer8
ENST00000675430.1:n.409del
ENST00000675621.1:c.182del ENSP00000502117.1:p.Leu61TyrfsTer8
ENST00000675764.1:c.*136del ENSP00000502242.1:n.*136del
ENST00000676077.1:c.-14del ENSP00000502507.1:n.-14del
ENST00000676098.1:c.182del ENSP00000502735.1:p.Leu61TyrfsTer8
ENST00000676188.1:c.182del ENSP00000502577.1:p.Leu61TyrfsTer8
ENST00000676201.1:n.336del
ENST00000676353.1:c.-14del ENSP00000502737.1:n.-14del
ENST00000676456.1:n.287del
ENST00000397195.9:c.182del ENSP00000380378.4:p.Leu61TyrfsTer8
ENST00000570400.1:c.*52del ENSP00000460258.1:n.*52del
ENST00000572915.6:n.273-912del
ENST00000574816.5:n.31-10234del
ENST00000575477.5:n.684del
ENST00000576586.5:c.182del ENSP00000461087.1:p.Leu61TyrfsTer8
ENST00000609078.1:n.141del
NM_000430.3:c.182del NP_000421.1:p.Leu61TyrfsTer8
XM_011523901.1:c.236del XP_011522203.1:p.Leu79TyrfsTer8
XM_011523902.1:c.236del XP_011522204.1:p.Leu79TyrfsTer8
XM_011523903.1:c.236del XP_011522205.1:p.Leu79TyrfsTer8
XM_011523904.1:c.236del XP_011522206.1:p.Leu79TyrfsTer8
XM_011523901.2:c.236del XP_011522203.1:p.Leu79TyrfsTer8
XM_011523902.3:c.236del XP_011522204.1:p.Leu79TyrfsTer8
XM_011523903.2:c.236del XP_011522205.1:p.Leu79TyrfsTer8
XM_017024701.1:c.182del XP_016880190.1:p.Leu61TyrfsTer8
XM_017024702.2:c.-14del XP_016880191.1:n.-14del
NM_000430.4:c.182del MANE Select NP_000421.1:p.Leu61TyrfsTer8