Canonical Allele Identifier: CA16620348
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419614
ClinVar RCV Id: RCV000483846
dbSNP Id: rs1064793990

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676561_2676565delinsATCTTAAT , CM000679.2:g.2676561_2676565delinsATCTTAAT GRCh38
NC_000017.10:g.2579855_2579859delinsATCTTAAT , CM000679.1:g.2579855_2579859delinsATCTTAAT GRCh37
NC_000017.9:g.2526605_2526609delinsATCTTAAT NCBI36
NG_009799.1:g.87933_87937delinsATCTTAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.957_961delinsATCTTAAT MANE Select ENSP00000380378.4:p.Thr320SerfsTer2
ENST00000571495.2:n.2042_2046delinsATCTTAAT
ENST00000674608.1:c.1011_1015delinsATCTTAAT ENSP00000501976.1:p.Thr338SerfsTer2
ENST00000674717.1:c.762_766delinsATCTTAAT ENSP00000501931.1:p.Thr255SerfsTer2
ENST00000675084.1:n.211_215delinsATCTTAAT
ENST00000675202.1:c.957_961delinsATCTTAAT ENSP00000502843.1:p.Thr320SerfsTer2
ENST00000675331.1:c.957_961delinsATCTTAAT ENSP00000502031.1:p.Thr320SerfsTer2
ENST00000675385.1:n.571_575delinsATCTTAAT
ENST00000675390.1:c.957_961delinsATCTTAAT ENSP00000501969.1:p.Thr320SerfsTer2
ENST00000675574.1:n.4012_4016delinsATCTTAAT
ENST00000675621.1:c.957_961delinsATCTTAAT ENSP00000502117.1:p.Thr320SerfsTer2
ENST00000675764.1:c.*911_*915delinsATCTTAAT ENSP00000502242.1:n.*911_*915delinsATCTTA...
ENST00000676077.1:c.*275_*279delinsATCTTAAT ENSP00000502507.1:n.*275_*279delinsATCTTA...
ENST00000676098.1:c.957_961delinsATCTTAAT ENSP00000502735.1:p.Thr320SerfsTer2
ENST00000676188.1:c.957_961delinsATCTTAAT ENSP00000502577.1:p.Thr320SerfsTer2
ENST00000676353.1:c.762_766delinsATCTTAAT ENSP00000502737.1:p.Thr255SerfsTer2
ENST00000397193.7:n.765_769delinsATCTTAAT
ENST00000397195.9:c.957_961delinsATCTTAAT ENSP00000380378.4:p.Thr320SerfsTer2
ENST00000571495.1:n.681_685delinsATCTTAAT
ENST00000572915.6:n.676+2465_676+2469delinsATCTTAAT
ENST00000574468.1:c.396+2273_396+2277delinsATCTTAAT ENSP00000460591.1:n.396+2273_396+2277deli...
ENST00000574816.5:n.278_282delinsATCTTAAT
NM_000430.3:c.957_961delinsATCTTAAT NP_000421.1:p.Thr320SerfsTer2
XM_011523901.1:c.1011_1015delinsATCTTAAT XP_011522203.1:p.Thr338SerfsTer2
XM_011523902.1:c.1011_1015delinsATCTTAAT XP_011522204.1:p.Thr338SerfsTer2
XM_011523903.1:c.1011_1015delinsATCTTAAT XP_011522205.1:p.Thr338SerfsTer2
XM_011523901.2:c.1011_1015delinsATCTTAAT XP_011522203.1:p.Thr338SerfsTer2
XM_011523902.3:c.1011_1015delinsATCTTAAT XP_011522204.1:p.Thr338SerfsTer2
XM_011523903.2:c.1011_1015delinsATCTTAAT XP_011522205.1:p.Thr338SerfsTer2
XM_017024701.1:c.957_961delinsATCTTAAT XP_016880190.1:p.Thr320SerfsTer2
XM_017024702.2:c.762_766delinsATCTTAAT XP_016880191.1:p.Thr255SerfsTer2
NM_000430.4:c.957_961delinsATCTTAAT MANE Select NP_000421.1:p.Thr320SerfsTer2