Canonical Allele Identifier: CA2576177249

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676404-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676411del , CM000679.2:g.2676411del	GRCh38
NC_000017.10:g.2579705del , CM000679.1:g.2579705del	GRCh37
NC_000017.9:g.2526455del	NCBI36
NG_009799.1:g.87783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-94del MANE Select	ENSP00000380378.4:n.901-94del
ENST00000571495.2:n.1986-94del
ENST00000674608.1:c.955-94del	ENSP00000501976.1:n.955-94del
ENST00000674717.1:c.706-94del	ENSP00000501931.1:n.706-94del
ENST00000675084.1:n.61del
ENST00000675202.1:c.901-94del	ENSP00000502843.1:n.901-94del
ENST00000675331.1:c.901-94del	ENSP00000502031.1:n.901-94del
ENST00000675385.1:n.421del
ENST00000675390.1:c.901-94del	ENSP00000501969.1:n.901-94del
ENST00000675574.1:n.3862del
ENST00000675621.1:c.901-94del	ENSP00000502117.1:n.901-94del
ENST00000675764.1:c.*855-94del	ENSP00000502242.1:n.*855-94del
ENST00000676077.1:c.*219-94del	ENSP00000502507.1:n.*219-94del
ENST00000676098.1:c.901-94del	ENSP00000502735.1:n.901-94del
ENST00000676188.1:c.901-94del	ENSP00000502577.1:n.901-94del
ENST00000676353.1:c.706-94del	ENSP00000502737.1:n.706-94del
ENST00000397193.7:n.709-94del
ENST00000397195.9:c.901-94del	ENSP00000380378.4:n.901-94del
ENST00000571495.1:n.625-94del
ENST00000572915.6:n.676+2315del
ENST00000574468.1:c.396+2123del	ENSP00000460591.1:n.396+2123del
ENST00000574816.5:n.128del
NM_000430.3:c.901-94del	NP_000421.1:n.901-94del
XM_011523901.1:c.955-94del	XP_011522203.1:n.955-94del
XM_011523902.1:c.955-94del	XP_011522204.1:n.955-94del
XM_011523903.1:c.955-94del	XP_011522205.1:n.955-94del
XM_011523901.2:c.955-94del	XP_011522203.1:n.955-94del
XM_011523902.3:c.955-94del	XP_011522204.1:n.955-94del
XM_011523903.2:c.955-94del	XP_011522205.1:n.955-94del
XM_017024701.1:c.901-94del	XP_016880190.1:n.901-94del
XM_017024702.2:c.706-94del	XP_016880191.1:n.706-94del
NM_000430.4:c.901-94del MANE Select	NP_000421.1:n.901-94del