Canonical Allele Identifier: CA2635321766

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2672757-G-GCTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672757_2672758insCTACT , CM000679.2:g.2672757_2672758insCTACT	GRCh38
NC_000017.10:g.2576051_2576052insCTACT , CM000679.1:g.2576051_2576052insCTACT	GRCh37
NC_000017.9:g.2522801_2522802insCTACT	NCBI36
NG_009799.1:g.84129_84130insCTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.671_671+1insCTACT MANE Select	ENSP00000380378.4:n.671_671+1insCTACT
ENST00000571495.2:n.454_455insCTACT
ENST00000674608.1:c.725_725+1insCTACT	ENSP00000501976.1:n.725_725+1insCTACT
ENST00000674717.1:c.476_476+1insCTACT	ENSP00000501931.1:n.476_476+1insCTACT
ENST00000675202.1:c.671_671+1insCTACT	ENSP00000502843.1:n.671_671+1insCTACT
ENST00000675331.1:c.671_671+1insCTACT	ENSP00000502031.1:n.671_671+1insCTACT
ENST00000675390.1:c.671_671+1insCTACT	ENSP00000501969.1:n.671_671+1insCTACT
ENST00000675574.1:n.441_442insCTACT
ENST00000675621.1:c.671_671+1insCTACT	ENSP00000502117.1:n.671_671+1insCTACT
ENST00000675764.1:c.*625_*625+1insCTACT	ENSP00000502242.1:n.*625_*625+1insCTACT
ENST00000676077.1:c.374-1303_374-1302insCTACT	ENSP00000502507.1:n.374-1303_374-1302insCTACT
ENST00000676098.1:c.671_671+1insCTACT	ENSP00000502735.1:n.671_671+1insCTACT
ENST00000676188.1:c.671_671+1insCTACT	ENSP00000502577.1:n.671_671+1insCTACT
ENST00000676353.1:c.476_476+1insCTACT	ENSP00000502737.1:n.476_476+1insCTACT
ENST00000397193.7:n.479_479+1insCTACT
ENST00000397195.9:c.671_671+1insCTACT	ENSP00000380378.4:n.671_671+1insCTACT
ENST00000572915.6:n.639_639+1insCTACT
ENST00000574468.1:c.167_167+1insCTACT	ENSP00000460591.1:n.167_167+1insCTACT
ENST00000574816.5:n.31-3557_31-3556insCTACT
NM_000430.3:c.671_671+1insCTACT	NP_000421.1:n.671_671+1insCTACT
XM_011523901.1:c.725_725+1insCTACT	XP_011522203.1:n.725_725+1insCTACT
XM_011523902.1:c.725_725+1insCTACT	XP_011522204.1:n.725_725+1insCTACT
XM_011523903.1:c.725_725+1insCTACT	XP_011522205.1:n.725_725+1insCTACT
XM_011523904.1:c.623-1303_623-1302insCTACT	XP_011522206.1:n.623-1303_623-1302insCTACT
XM_011523901.2:c.725_725+1insCTACT	XP_011522203.1:n.725_725+1insCTACT
XM_011523902.3:c.725_725+1insCTACT	XP_011522204.1:n.725_725+1insCTACT
XM_011523903.2:c.725_725+1insCTACT	XP_011522205.1:n.725_725+1insCTACT
XM_017024701.1:c.671_671+1insCTACT	XP_016880190.1:n.671_671+1insCTACT
XM_017024702.2:c.476_476+1insCTACT	XP_016880191.1:n.476_476+1insCTACT
NM_000430.4:c.671_671+1insCTACT MANE Select	NP_000421.1:n.671_671+1insCTACT