Canonical Allele Identifier: CA2635320322

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2666042-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666044del , CM000679.2:g.2666044del	GRCh38
NC_000017.10:g.2569338del , CM000679.1:g.2569338del	GRCh37
NC_000017.9:g.2516088del	NCBI36
NG_009799.1:g.77416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.146del MANE Select	ENSP00000380378.4:p.Gly49ValfsTer20
ENST00000674608.1:c.200del	ENSP00000501976.1:p.Gly67ValfsTer20
ENST00000674717.1:c.-3-948del	ENSP00000501931.1:n.-3-948del
ENST00000675202.1:c.146del	ENSP00000502843.1:p.Gly49ValfsTer20
ENST00000675331.1:c.146del	ENSP00000502031.1:p.Gly49ValfsTer20
ENST00000675390.1:c.146del	ENSP00000501969.1:p.Gly49ValfsTer20
ENST00000675430.1:n.373del
ENST00000675621.1:c.146del	ENSP00000502117.1:p.Gly49ValfsTer20
ENST00000675764.1:c.*100del	ENSP00000502242.1:n.*100del
ENST00000676077.1:c.-50del	ENSP00000502507.1:n.-50del
ENST00000676098.1:c.146del	ENSP00000502735.1:p.Gly49ValfsTer20
ENST00000676188.1:c.146del	ENSP00000502577.1:p.Gly49ValfsTer20
ENST00000676201.1:n.300del
ENST00000676353.1:c.-50del	ENSP00000502737.1:n.-50del
ENST00000676456.1:n.251del
ENST00000397195.9:c.146del	ENSP00000380378.4:p.Gly49ValfsTer20
ENST00000570400.1:c.*16del	ENSP00000460258.1:n.*16del
ENST00000572915.6:n.273-948del
ENST00000574816.5:n.31-10270del
ENST00000575477.5:n.648del
ENST00000576586.5:c.146del	ENSP00000461087.1:p.Gly49ValfsTer20
ENST00000609078.1:n.105del
NM_000430.3:c.146del	NP_000421.1:p.Gly49ValfsTer20
XM_011523901.1:c.200del	XP_011522203.1:p.Gly67ValfsTer20
XM_011523902.1:c.200del	XP_011522204.1:p.Gly67ValfsTer20
XM_011523903.1:c.200del	XP_011522205.1:p.Gly67ValfsTer20
XM_011523904.1:c.200del	XP_011522206.1:p.Gly67ValfsTer20
XM_011523901.2:c.200del	XP_011522203.1:p.Gly67ValfsTer20
XM_011523902.3:c.200del	XP_011522204.1:p.Gly67ValfsTer20
XM_011523903.2:c.200del	XP_011522205.1:p.Gly67ValfsTer20
XM_017024701.1:c.146del	XP_016880190.1:p.Gly49ValfsTer20
XM_017024702.2:c.-50del	XP_016880191.1:n.-50del
NM_000430.4:c.146del MANE Select	NP_000421.1:p.Gly49ValfsTer20