Canonical Allele Identifier: CA277072
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211835
ClinVar RCV Id: RCV000193085
dbSNP Id: rs797045871

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676515del , CM000679.2:g.2676515del GRCh38
NC_000017.10:g.2579809del , CM000679.1:g.2579809del GRCh37
NC_000017.9:g.2526559del NCBI36
NG_009799.1:g.87887del

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.911del MANE Select ENSP00000380378.4:p.Ser304MetfsTer29
ENST00000571495.2:n.1996del
ENST00000674608.1:c.965del ENSP00000501976.1:p.Ser322MetfsTer29
ENST00000674717.1:c.716del ENSP00000501931.1:p.Ser239MetfsTer29
ENST00000675084.1:n.165del
ENST00000675202.1:c.911del ENSP00000502843.1:p.Ser304MetfsTer29
ENST00000675331.1:c.911del ENSP00000502031.1:p.Ser304MetfsTer29
ENST00000675385.1:n.525del
ENST00000675390.1:c.911del ENSP00000501969.1:p.Ser304MetfsTer29
ENST00000675574.1:n.3966del
ENST00000675621.1:c.911del ENSP00000502117.1:p.Ser304MetfsTer29
ENST00000675764.1:c.*865del ENSP00000502242.1:n.*865del
ENST00000676077.1:c.*229del ENSP00000502507.1:n.*229del
ENST00000676098.1:c.911del ENSP00000502735.1:p.Ser304MetfsTer29
ENST00000676188.1:c.911del ENSP00000502577.1:p.Ser304MetfsTer29
ENST00000676353.1:c.716del ENSP00000502737.1:p.Ser239MetfsTer29
ENST00000397193.7:n.719del
ENST00000397195.9:c.911del ENSP00000380378.4:p.Ser304MetfsTer29
ENST00000571495.1:n.635del
ENST00000572915.6:n.676+2419del
ENST00000574468.1:c.396+2227del ENSP00000460591.1:n.396+2227del
ENST00000574816.5:n.232del
NM_000430.3:c.911del NP_000421.1:p.Ser304MetfsTer29
XM_011523901.1:c.965del XP_011522203.1:p.Ser322MetfsTer29
XM_011523902.1:c.965del XP_011522204.1:p.Ser322MetfsTer29
XM_011523903.1:c.965del XP_011522205.1:p.Ser322MetfsTer29
XM_011523901.2:c.965del XP_011522203.1:p.Ser322MetfsTer29
XM_011523902.3:c.965del XP_011522204.1:p.Ser322MetfsTer29
XM_011523903.2:c.965del XP_011522205.1:p.Ser322MetfsTer29
XM_017024701.1:c.911del XP_016880190.1:p.Ser304MetfsTer29
XM_017024702.2:c.716del XP_016880191.1:p.Ser239MetfsTer29
NM_000430.4:c.911del MANE Select NP_000421.1:p.Ser304MetfsTer29