Canonical Allele Identifier: CA2589839853

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs2151634456
• gnomAD v3: 17-2638171-CT-C
• gnomAD v4: 17-2638171-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2638172del , CM000679.2:g.2638172del	GRCh38
NC_000017.10:g.2541466del , CM000679.1:g.2541466del	GRCh37
NC_000017.9:g.2488216del	NCBI36
NG_009799.1:g.49544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.-117del MANE Select	ENSP00000380378.4:n.-117del
ENST00000674608.1:c.-117del	ENSP00000501976.1:n.-117del
ENST00000674717.1:c.-152del	ENSP00000501931.1:n.-152del
ENST00000675202.1:c.-117del	ENSP00000502843.1:n.-117del
ENST00000675331.1:c.-117del	ENSP00000502031.1:n.-117del
ENST00000675390.1:c.-117del	ENSP00000501969.1:n.-117del
ENST00000675430.1:n.111del
ENST00000675621.1:c.-117del	ENSP00000502117.1:n.-117del
ENST00000675764.1:c.-117del	ENSP00000502242.1:n.-117del
ENST00000676077.1:c.-163-27200del	ENSP00000502507.1:n.-163-27200del
ENST00000676098.1:c.-117del	ENSP00000502735.1:n.-117del
ENST00000676188.1:c.-117del	ENSP00000502577.1:n.-117del
ENST00000676201.1:n.123del
ENST00000676353.1:c.-227del	ENSP00000502737.1:n.-227del
ENST00000676456.1:n.74del
ENST00000397195.9:c.-117del	ENSP00000380378.4:n.-117del
ENST00000570400.1:c.-117del	ENSP00000460258.1:n.-117del
ENST00000571289.1:n.113del
ENST00000572915.6:n.124del
ENST00000574816.5:n.30+28604del
ENST00000575477.5:n.471del
ENST00000576586.5:c.-117del	ENSP00000461087.1:n.-117del
NM_000430.3:c.-117del	NP_000421.1:n.-117del
XM_011523901.1:c.-117del	XP_011522203.1:n.-117del
XM_011523902.1:c.-117del	XP_011522204.1:n.-117del
XM_011523903.1:c.-117del	XP_011522205.1:n.-117del
XM_011523904.1:c.-117del	XP_011522206.1:n.-117del
XM_011523901.2:c.-117del	XP_011522203.1:n.-117del
XM_011523902.3:c.-117del	XP_011522204.1:n.-117del
XM_011523903.2:c.-117del	XP_011522205.1:n.-117del
XM_017024701.1:c.-117del	XP_016880190.1:n.-117del
XM_017024702.2:c.-227del	XP_016880191.1:n.-227del
NM_000430.4:c.-117del MANE Select	NP_000421.1:n.-117del