Canonical Allele Identifier: CA277166
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211821
ClinVar RCV Id: RCV000193550
dbSNP Id: rs797045858

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2667087_2667088dup , CM000679.2:g.2667087_2667088dup GRCh38
NC_000017.10:g.2570381_2570382dup , CM000679.1:g.2570381_2570382dup GRCh37
NC_000017.9:g.2517131_2517132dup NCBI36
NG_009799.1:g.78459_78460dup

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.288_289dup MANE Select ENSP00000380378.4:p.Arg97ProfsTer9
ENST00000674608.1:c.342_343dup ENSP00000501976.1:p.Arg115ProfsTer9
ENST00000674717.1:c.93_94dup ENSP00000501931.1:p.Arg32ProfsTer9
ENST00000675202.1:c.288_289dup ENSP00000502843.1:p.Arg97ProfsTer9
ENST00000675331.1:c.288_289dup ENSP00000502031.1:p.Arg97ProfsTer9
ENST00000675390.1:c.288_289dup ENSP00000501969.1:p.Arg97ProfsTer9
ENST00000675430.1:n.515_516dup
ENST00000675621.1:c.288_289dup ENSP00000502117.1:p.Arg97ProfsTer9
ENST00000675764.1:c.*242_*243dup ENSP00000502242.1:n.*242_*243dup
ENST00000676077.1:c.93_94dup ENSP00000502507.1:p.Arg32ProfsTer9
ENST00000676098.1:c.288_289dup ENSP00000502735.1:p.Arg97ProfsTer9
ENST00000676188.1:c.288_289dup ENSP00000502577.1:p.Arg97ProfsTer9
ENST00000676201.1:n.442_443dup
ENST00000676353.1:c.93_94dup ENSP00000502737.1:p.Arg32ProfsTer9
ENST00000676456.1:n.393_394dup
ENST00000397195.9:c.288_289dup ENSP00000380378.4:p.Arg97ProfsTer9
ENST00000570400.1:c.*158_*159dup ENSP00000460258.1:n.*158_*159dup
ENST00000572915.6:n.368_369dup
ENST00000574816.5:n.31-9227_31-9226dup
ENST00000609078.1:n.247_248dup
NM_000430.3:c.288_289dup NP_000421.1:p.Arg97ProfsTer9
XM_011523901.1:c.342_343dup XP_011522203.1:p.Arg115ProfsTer9
XM_011523902.1:c.342_343dup XP_011522204.1:p.Arg115ProfsTer9
XM_011523903.1:c.342_343dup XP_011522205.1:p.Arg115ProfsTer9
XM_011523904.1:c.342_343dup XP_011522206.1:p.Arg115ProfsTer9
XM_011523901.2:c.342_343dup XP_011522203.1:p.Arg115ProfsTer9
XM_011523902.3:c.342_343dup XP_011522204.1:p.Arg115ProfsTer9
XM_011523903.2:c.342_343dup XP_011522205.1:p.Arg115ProfsTer9
XM_017024701.1:c.288_289dup XP_016880190.1:p.Arg97ProfsTer9
XM_017024702.2:c.93_94dup XP_016880191.1:p.Arg32ProfsTer9
NM_000430.4:c.288_289dup MANE Select NP_000421.1:p.Arg97ProfsTer9