Canonical Allele Identifier: CA2243487250
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2665336_2665337delinsTC , CM000679.2:g.2665336_2665337delinsTC GRCh38
NC_000017.10:g.2568630_2568631delinsTC , CM000679.1:g.2568630_2568631delinsTC GRCh37
NC_000017.9:g.2515380_2515381delinsTC NCBI36
NG_009799.1:g.76708_76709delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.33-36_33-35delinsTC MANE Select ENSP00000380378.4:n.33-36_33-35delinsTC
ENST00000674608.1:c.87-36_87-35delinsTC ENSP00000501976.1:n.87-36_87-35delinsTC
ENST00000674717.1:c.-3-1656_-3-1655delinsTC ENSP00000501931.1:n.-3-1656_-3-1655delinsTC
ENST00000675202.1:c.33-36_33-35delinsTC ENSP00000502843.1:n.33-36_33-35delinsTC
ENST00000675331.1:c.33-36_33-35delinsTC ENSP00000502031.1:n.33-36_33-35delinsTC
ENST00000675390.1:c.33-36_33-35delinsTC ENSP00000501969.1:n.33-36_33-35delinsTC
ENST00000675430.1:n.260-36_260-35delinsTC
ENST00000675621.1:c.33-36_33-35delinsTC ENSP00000502117.1:n.33-36_33-35delinsTC
ENST00000675764.1:c.131-36_131-35delinsTC ENSP00000502242.1:n.131-36_131-35delinsTC
ENST00000676077.1:c.-163-36_-163-35delinsTC ENSP00000502507.1:n.-163-36_-163-35delinsTC
ENST00000676098.1:c.33-36_33-35delinsTC ENSP00000502735.1:n.33-36_33-35delinsTC
ENST00000676188.1:c.33-36_33-35delinsTC ENSP00000502577.1:n.33-36_33-35delinsTC
ENST00000676201.1:n.272-680_272-679delinsTC
ENST00000676353.1:c.-78-680_-78-679delinsTC ENSP00000502737.1:n.-78-680_-78-679delinsTC
ENST00000676456.1:n.223-680_223-679delinsTC
ENST00000397195.9:c.33-36_33-35delinsTC ENSP00000380378.4:n.33-36_33-35delinsTC
ENST00000570400.1:c.33-680_33-679delinsTC ENSP00000460258.1:n.33-680_33-679delinsTC
ENST00000572915.6:n.273-1656_273-1655delinsTC
ENST00000574816.5:n.31-10978_31-10977delinsTC
ENST00000575477.5:n.620-680_620-679delinsTC
ENST00000576586.5:c.33-36_33-35delinsTC ENSP00000461087.1:n.33-36_33-35delinsTC
NM_000430.3:c.33-36_33-35delinsTC NP_000421.1:n.33-36_33-35delinsTC
XM_011523901.1:c.87-36_87-35delinsTC XP_011522203.1:n.87-36_87-35delinsTC
XM_011523902.1:c.87-36_87-35delinsTC XP_011522204.1:n.87-36_87-35delinsTC
XM_011523903.1:c.87-36_87-35delinsTC XP_011522205.1:n.87-36_87-35delinsTC
XM_011523904.1:c.87-36_87-35delinsTC XP_011522206.1:n.87-36_87-35delinsTC
XM_011523901.2:c.87-36_87-35delinsTC XP_011522203.1:n.87-36_87-35delinsTC
XM_011523902.3:c.87-36_87-35delinsTC XP_011522204.1:n.87-36_87-35delinsTC
XM_011523903.2:c.87-36_87-35delinsTC XP_011522205.1:n.87-36_87-35delinsTC
XM_017024701.1:c.33-36_33-35delinsTC XP_016880190.1:n.33-36_33-35delinsTC
XM_017024702.2:c.-78-680_-78-679delinsTC XP_016880191.1:n.-78-680_-78-679delinsTC
NM_000430.4:c.33-36_33-35delinsTC MANE Select NP_000421.1:n.33-36_33-35delinsTC