Canonical Allele Identifier: CA2243492436

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676378_2676382delinsAAAAC , CM000679.2:g.2676378_2676382delinsAAAAC	GRCh38
NC_000017.10:g.2579672_2579676delinsAAAAC , CM000679.1:g.2579672_2579676delinsAAAAC	GRCh37
NC_000017.9:g.2526422_2526426delinsAAAAC	NCBI36
NG_009799.1:g.87750_87754delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-127_901-123delinsAAAAC MANE Select	ENSP00000380378.4:n.901-127_901-123delinsAAAAC
ENST00000571495.2:n.1986-127_1986-123delinsAAAAC
ENST00000674608.1:c.955-127_955-123delinsAAAAC	ENSP00000501976.1:n.955-127_955-123delinsAAAAC
ENST00000674717.1:c.706-127_706-123delinsAAAAC	ENSP00000501931.1:n.706-127_706-123delinsAAAAC
ENST00000675084.1:n.28_32delinsAAAAC
ENST00000675202.1:c.901-127_901-123delinsAAAAC	ENSP00000502843.1:n.901-127_901-123delinsAAAAC
ENST00000675331.1:c.901-127_901-123delinsAAAAC	ENSP00000502031.1:n.901-127_901-123delinsAAAAC
ENST00000675385.1:n.388_392delinsAAAAC
ENST00000675390.1:c.901-127_901-123delinsAAAAC	ENSP00000501969.1:n.901-127_901-123delinsAAAAC
ENST00000675574.1:n.3829_3833delinsAAAAC
ENST00000675621.1:c.901-127_901-123delinsAAAAC	ENSP00000502117.1:n.901-127_901-123delinsAAAAC
ENST00000675764.1:c.*855-127_*855-123delinsAAAAC	ENSP00000502242.1:n.*855-127_*855-123delinsAAAAC
ENST00000676077.1:c.*219-127_*219-123delinsAAAAC	ENSP00000502507.1:n.*219-127_*219-123delinsAAAAC
ENST00000676098.1:c.901-127_901-123delinsAAAAC	ENSP00000502735.1:n.901-127_901-123delinsAAAAC
ENST00000676188.1:c.901-127_901-123delinsAAAAC	ENSP00000502577.1:n.901-127_901-123delinsAAAAC
ENST00000676353.1:c.706-127_706-123delinsAAAAC	ENSP00000502737.1:n.706-127_706-123delinsAAAAC
ENST00000397193.7:n.709-127_709-123delinsAAAAC
ENST00000397195.9:c.901-127_901-123delinsAAAAC	ENSP00000380378.4:n.901-127_901-123delinsAAAAC
ENST00000571495.1:n.625-127_625-123delinsAAAAC
ENST00000572915.6:n.676+2282_676+2286delinsAAAAC
ENST00000574468.1:c.396+2090_396+2094delinsAAAAC	ENSP00000460591.1:n.396+2090_396+2094delinsAAAAC
ENST00000574816.5:n.95_99delinsAAAAC
NM_000430.3:c.901-127_901-123delinsAAAAC	NP_000421.1:n.901-127_901-123delinsAAAAC
XM_011523901.1:c.955-127_955-123delinsAAAAC	XP_011522203.1:n.955-127_955-123delinsAAAAC
XM_011523902.1:c.955-127_955-123delinsAAAAC	XP_011522204.1:n.955-127_955-123delinsAAAAC
XM_011523903.1:c.955-127_955-123delinsAAAAC	XP_011522205.1:n.955-127_955-123delinsAAAAC
XM_011523901.2:c.955-127_955-123delinsAAAAC	XP_011522203.1:n.955-127_955-123delinsAAAAC
XM_011523902.3:c.955-127_955-123delinsAAAAC	XP_011522204.1:n.955-127_955-123delinsAAAAC
XM_011523903.2:c.955-127_955-123delinsAAAAC	XP_011522205.1:n.955-127_955-123delinsAAAAC
XM_017024701.1:c.901-127_901-123delinsAAAAC	XP_016880190.1:n.901-127_901-123delinsAAAAC
XM_017024702.2:c.706-127_706-123delinsAAAAC	XP_016880191.1:n.706-127_706-123delinsAAAAC
NM_000430.4:c.901-127_901-123delinsAAAAC MANE Select	NP_000421.1:n.901-127_901-123delinsAAAAC