Canonical Allele Identifier: CA2243492438
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2676386_2676390delinsCAAAA , CM000679.2:g.2676386_2676390delinsCAAAA GRCh38
NC_000017.10:g.2579680_2579684delinsCAAAA , CM000679.1:g.2579680_2579684delinsCAAAA GRCh37
NC_000017.9:g.2526430_2526434delinsCAAAA NCBI36
NG_009799.1:g.87758_87762delinsCAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.901-119_901-115delinsCAAAA MANE Select ENSP00000380378.4:n.901-119_901-115delinsCAAAA
ENST00000571495.2:n.1986-119_1986-115delinsCAAAA
ENST00000674608.1:c.955-119_955-115delinsCAAAA ENSP00000501976.1:n.955-119_955-115delinsCAAAA
ENST00000674717.1:c.706-119_706-115delinsCAAAA ENSP00000501931.1:n.706-119_706-115delinsCAAAA
ENST00000675084.1:n.36_40delinsCAAAA
ENST00000675202.1:c.901-119_901-115delinsCAAAA ENSP00000502843.1:n.901-119_901-115delinsCAAAA
ENST00000675331.1:c.901-119_901-115delinsCAAAA ENSP00000502031.1:n.901-119_901-115delinsCAAAA
ENST00000675385.1:n.396_400delinsCAAAA
ENST00000675390.1:c.901-119_901-115delinsCAAAA ENSP00000501969.1:n.901-119_901-115delinsCAAAA
ENST00000675574.1:n.3837_3841delinsCAAAA
ENST00000675621.1:c.901-119_901-115delinsCAAAA ENSP00000502117.1:n.901-119_901-115delinsCAAAA
ENST00000675764.1:c.*855-119_*855-115delinsCAAAA ENSP00000502242.1:n.*855-119_*855-115delinsCAAAA
ENST00000676077.1:c.*219-119_*219-115delinsCAAAA ENSP00000502507.1:n.*219-119_*219-115delinsCAAAA
ENST00000676098.1:c.901-119_901-115delinsCAAAA ENSP00000502735.1:n.901-119_901-115delinsCAAAA
ENST00000676188.1:c.901-119_901-115delinsCAAAA ENSP00000502577.1:n.901-119_901-115delinsCAAAA
ENST00000676353.1:c.706-119_706-115delinsCAAAA ENSP00000502737.1:n.706-119_706-115delinsCAAAA
ENST00000397193.7:n.709-119_709-115delinsCAAAA
ENST00000397195.9:c.901-119_901-115delinsCAAAA ENSP00000380378.4:n.901-119_901-115delinsCAAAA
ENST00000571495.1:n.625-119_625-115delinsCAAAA
ENST00000572915.6:n.676+2290_676+2294delinsCAAAA
ENST00000574468.1:c.396+2098_396+2102delinsCAAAA ENSP00000460591.1:n.396+2098_396+2102delinsCAAAA
ENST00000574816.5:n.103_107delinsCAAAA
NM_000430.3:c.901-119_901-115delinsCAAAA NP_000421.1:n.901-119_901-115delinsCAAAA
XM_011523901.1:c.955-119_955-115delinsCAAAA XP_011522203.1:n.955-119_955-115delinsCAAAA
XM_011523902.1:c.955-119_955-115delinsCAAAA XP_011522204.1:n.955-119_955-115delinsCAAAA
XM_011523903.1:c.955-119_955-115delinsCAAAA XP_011522205.1:n.955-119_955-115delinsCAAAA
XM_011523901.2:c.955-119_955-115delinsCAAAA XP_011522203.1:n.955-119_955-115delinsCAAAA
XM_011523902.3:c.955-119_955-115delinsCAAAA XP_011522204.1:n.955-119_955-115delinsCAAAA
XM_011523903.2:c.955-119_955-115delinsCAAAA XP_011522205.1:n.955-119_955-115delinsCAAAA
XM_017024701.1:c.901-119_901-115delinsCAAAA XP_016880190.1:n.901-119_901-115delinsCAAAA
XM_017024702.2:c.706-119_706-115delinsCAAAA XP_016880191.1:n.706-119_706-115delinsCAAAA
NM_000430.4:c.901-119_901-115delinsCAAAA MANE Select NP_000421.1:n.901-119_901-115delinsCAAAA