Canonical Allele Identifier: CA272386
Gene: PAFAH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159505
ClinVar RCV Id: RCV000147021
dbSNP Id: rs587784252
MyVariant Identifiers: chr17:g.2569328_2569329del (hg19) chr17:g.2666034_2666035del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2666034_2666035del , CM000679.2:g.2666034_2666035del GRCh38
NC_000017.10:g.2569328_2569329del , CM000679.1:g.2569328_2569329del GRCh37
NC_000017.9:g.2516078_2516079del NCBI36
NG_009799.1:g.77406_77407del

Transcript Alleles

HGVS Amino-acid change
ENST00000397195.10:c.136_137del MANE Select ENSP00000380378.4:p.Lys46ValfsTer14
ENST00000674608.1:c.190_191del ENSP00000501976.1:p.Lys64ValfsTer14
ENST00000674717.1:c.-3-958_-3-957del ENSP00000501931.1:n.-3-958_-3-957del
ENST00000675202.1:c.136_137del ENSP00000502843.1:p.Lys46ValfsTer14
ENST00000675331.1:c.136_137del ENSP00000502031.1:p.Lys46ValfsTer14
ENST00000675390.1:c.136_137del ENSP00000501969.1:p.Lys46ValfsTer14
ENST00000675430.1:n.363_364del
ENST00000675621.1:c.136_137del ENSP00000502117.1:p.Lys46ValfsTer14
ENST00000675764.1:c.*90_*91del ENSP00000502242.1:n.*90_*91del
ENST00000676077.1:c.-60_-59del ENSP00000502507.1:n.-60_-59del
ENST00000676098.1:c.136_137del ENSP00000502735.1:p.Lys46ValfsTer14
ENST00000676188.1:c.136_137del ENSP00000502577.1:p.Lys46ValfsTer14
ENST00000676201.1:n.290_291del
ENST00000676353.1:c.-60_-59del ENSP00000502737.1:n.-60_-59del
ENST00000676456.1:n.241_242del
ENST00000397195.9:c.136_137del ENSP00000380378.4:p.Lys46ValfsTer14
ENST00000570400.1:c.*6_*7del ENSP00000460258.1:n.*6_*7del
ENST00000572915.6:n.273-958_273-957del
ENST00000574816.5:n.31-10280_31-10279del
ENST00000575477.5:n.638_639del
ENST00000576586.5:c.136_137del ENSP00000461087.1:p.Lys46ValfsTer14
ENST00000609078.1:n.95_96del
NM_000430.3:c.136_137del NP_000421.1:p.Lys46ValfsTer14
XM_011523901.1:c.190_191del XP_011522203.1:p.Lys64ValfsTer14
XM_011523902.1:c.190_191del XP_011522204.1:p.Lys64ValfsTer14
XM_011523903.1:c.190_191del XP_011522205.1:p.Lys64ValfsTer14
XM_011523904.1:c.190_191del XP_011522206.1:p.Lys64ValfsTer14
XM_011523901.2:c.190_191del XP_011522203.1:p.Lys64ValfsTer14
XM_011523902.3:c.190_191del XP_011522204.1:p.Lys64ValfsTer14
XM_011523903.2:c.190_191del XP_011522205.1:p.Lys64ValfsTer14
XM_017024701.1:c.136_137del XP_016880190.1:p.Lys46ValfsTer14
XM_017024702.2:c.-60_-59del XP_016880191.1:n.-60_-59del
NM_000430.4:c.136_137del MANE Select NP_000421.1:p.Lys46ValfsTer14
Search 100 bp 5'
Search 100 bp 3'