Canonical Allele Identifier: CA341704
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2680211del , CM000679.2:g.2680211del GRCh38
NC_000017.10:g.2583505del , CM000679.1:g.2583505del GRCh37
NC_000017.9:g.2530255del NCBI36
NG_009799.1:g.91583del

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.1050del MANE Select ENSP00000380378.4:p.Lys351SerfsTer4
ENST00000571495.2:n.2135del
ENST00000610190.2:n.602del
ENST00000674608.1:c.1104del ENSP00000501976.1:p.Lys369SerfsTer4
ENST00000674717.1:c.855del ENSP00000501931.1:p.Lys286SerfsTer4
ENST00000675084.1:n.304del
ENST00000675202.1:c.1050del ENSP00000502843.1:p.Lys351SerfsTer4
ENST00000675331.1:c.1050del ENSP00000502031.1:p.Lys351SerfsTer4
ENST00000675385.1:n.664del
ENST00000675390.1:c.1050del ENSP00000501969.1:p.Lys351SerfsTer4
ENST00000675574.1:n.4105del
ENST00000675621.1:c.*86-1518del ENSP00000502117.1:n.*86-1518del
ENST00000675764.1:c.*1004del ENSP00000502242.1:n.*1004del
ENST00000676077.1:c.*368del ENSP00000502507.1:n.*368del
ENST00000676098.1:c.1050del ENSP00000502735.1:p.Lys351SerfsTer4
ENST00000676188.1:c.1050del ENSP00000502577.1:p.Lys351SerfsTer4
ENST00000676353.1:c.855del ENSP00000502737.1:p.Lys286SerfsTer4
ENST00000397193.7:n.858del
ENST00000397195.9:c.1050del ENSP00000380378.4:p.Lys351SerfsTer4
ENST00000571495.1:n.774del
ENST00000572915.6:n.677-3377del
ENST00000574468.1:c.444del ENSP00000460591.1:p.Lys149SerfsTer4
ENST00000574816.5:n.371del
ENST00000610190.1:n.525del
NM_000430.3:c.1050del NP_000421.1:p.Lys351SerfsTer4
XM_011523901.1:c.1104del XP_011522203.1:p.Lys369SerfsTer4
XM_011523902.1:c.1104del XP_011522204.1:p.Lys369SerfsTer4
XM_011523903.1:c.1104del XP_011522205.1:p.Lys369SerfsTer4
XM_011523901.2:c.1104del XP_011522203.1:p.Lys369SerfsTer4
XM_011523902.3:c.1104del XP_011522204.1:p.Lys369SerfsTer4
XM_011523903.2:c.1104del XP_011522205.1:p.Lys369SerfsTer4
XM_017024701.1:c.1050del XP_016880190.1:p.Lys351SerfsTer4
XM_017024702.2:c.855del XP_016880191.1:p.Lys286SerfsTer4
NM_000430.4:c.1050del MANE Select NP_000421.1:p.Lys351SerfsTer4