Canonical Allele Identifier: CA645577987

Gene: PAFAH1B1

Linked Data

• COSMIC: COSM4450077

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2670201del , CM000679.2:g.2670201del	GRCh38
NC_000017.10:g.2573495del , CM000679.1:g.2573495del	GRCh37
NC_000017.9:g.2520245del	NCBI36
NG_009799.1:g.81573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.438del MANE Select	ENSP00000380378.4:p.Gly148AspfsTer25
ENST00000674608.1:c.492del	ENSP00000501976.1:p.Gly166AspfsTer25
ENST00000674717.1:c.243del	ENSP00000501931.1:p.Gly83AspfsTer25
ENST00000675202.1:c.438del	ENSP00000502843.1:p.Gly148AspfsTer25
ENST00000675331.1:c.438del	ENSP00000502031.1:p.Gly148AspfsTer25
ENST00000675390.1:c.438del	ENSP00000501969.1:p.Gly148AspfsTer25
ENST00000675430.1:n.665del
ENST00000675621.1:c.438del	ENSP00000502117.1:p.Gly148AspfsTer25
ENST00000675764.1:c.*392del	ENSP00000502242.1:n.*392del
ENST00000676077.1:c.243del	ENSP00000502507.1:p.Gly83AspfsTer25
ENST00000676098.1:c.438del	ENSP00000502735.1:p.Gly148AspfsTer25
ENST00000676188.1:c.438del	ENSP00000502577.1:p.Gly148AspfsTer25
ENST00000676201.1:n.592del
ENST00000676353.1:c.243del	ENSP00000502737.1:p.Gly83AspfsTer25
ENST00000676456.1:n.543del
ENST00000397193.7:n.246del
ENST00000397195.9:c.438del	ENSP00000380378.4:p.Gly148AspfsTer25
ENST00000572915.6:n.480-74del
ENST00000574816.5:n.31-6113del
ENST00000609078.1:n.397del
NM_000430.3:c.438del	NP_000421.1:p.Gly148AspfsTer25
XM_011523901.1:c.492del	XP_011522203.1:p.Gly166AspfsTer25
XM_011523902.1:c.492del	XP_011522204.1:p.Gly166AspfsTer25
XM_011523903.1:c.492del	XP_011522205.1:p.Gly166AspfsTer25
XM_011523904.1:c.492del	XP_011522206.1:p.Gly166AspfsTer25
XM_011523901.2:c.492del	XP_011522203.1:p.Gly166AspfsTer25
XM_011523902.3:c.492del	XP_011522204.1:p.Gly166AspfsTer25
XM_011523903.2:c.492del	XP_011522205.1:p.Gly166AspfsTer25
XM_017024701.1:c.438del	XP_016880190.1:p.Gly148AspfsTer25
XM_017024702.2:c.243del	XP_016880191.1:p.Gly83AspfsTer25
NM_000430.4:c.438del MANE Select	NP_000421.1:p.Gly148AspfsTer25