Canonical Allele Identifier: CA272438
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159542
ClinVar RCV Id: RCV000147058
dbSNP Id: rs587784284

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2674104dup , CM000679.2:g.2674104dup GRCh38
NC_000017.10:g.2577398dup , CM000679.1:g.2577398dup GRCh37
NC_000017.9:g.2524148dup NCBI36
NG_009799.1:g.85476dup

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.716dup MANE Select ENSP00000380378.4:p.Met239IlefsTer17
ENST00000571495.2:n.1801dup
ENST00000674608.1:c.770dup ENSP00000501976.1:p.Met257IlefsTer17
ENST00000674717.1:c.521dup ENSP00000501931.1:p.Met174IlefsTer17
ENST00000675202.1:c.716dup ENSP00000502843.1:p.Met239IlefsTer17
ENST00000675331.1:c.716dup ENSP00000502031.1:p.Met239IlefsTer17
ENST00000675390.1:c.716dup ENSP00000501969.1:p.Met239IlefsTer17
ENST00000675574.1:n.1788dup
ENST00000675621.1:c.716dup ENSP00000502117.1:p.Met239IlefsTer17
ENST00000675764.1:c.*670dup ENSP00000502242.1:n.*670dup
ENST00000676077.1:c.*34dup ENSP00000502507.1:n.*34dup
ENST00000676098.1:c.716dup ENSP00000502735.1:p.Met239IlefsTer17
ENST00000676188.1:c.716dup ENSP00000502577.1:p.Met239IlefsTer17
ENST00000676353.1:c.521dup ENSP00000502737.1:p.Met174IlefsTer17
ENST00000397193.7:n.524dup
ENST00000397195.9:c.716dup ENSP00000380378.4:p.Met239IlefsTer17
ENST00000571495.1:n.440dup
ENST00000572915.6:n.676+8dup
ENST00000574468.1:c.212dup ENSP00000460591.1:p.Met71IlefsTer17
ENST00000574816.5:n.31-2210dup
NM_000430.3:c.716dup NP_000421.1:p.Met239IlefsTer17
XM_011523901.1:c.770dup XP_011522203.1:p.Met257IlefsTer17
XM_011523902.1:c.770dup XP_011522204.1:p.Met257IlefsTer17
XM_011523903.1:c.770dup XP_011522205.1:p.Met257IlefsTer17
XM_011523904.1:c.*34dup XP_011522206.1:n.*34dup
XM_011523901.2:c.770dup XP_011522203.1:p.Met257IlefsTer17
XM_011523902.3:c.770dup XP_011522204.1:p.Met257IlefsTer17
XM_011523903.2:c.770dup XP_011522205.1:p.Met257IlefsTer17
XM_017024701.1:c.716dup XP_016880190.1:p.Met239IlefsTer17
XM_017024702.2:c.521dup XP_016880191.1:p.Met174IlefsTer17
NM_000430.4:c.716dup MANE Select NP_000421.1:p.Met239IlefsTer17