Canonical Allele Identifier: CA2635348940

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2638167-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2638171del , CM000679.2:g.2638171del	GRCh38
NC_000017.10:g.2541465del , CM000679.1:g.2541465del	GRCh37
NC_000017.9:g.2488215del	NCBI36
NG_009799.1:g.49543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.-118del MANE Select	ENSP00000380378.4:n.-118del
ENST00000674608.1:c.-118del	ENSP00000501976.1:n.-118del
ENST00000674717.1:c.-153del	ENSP00000501931.1:n.-153del
ENST00000675202.1:c.-118del	ENSP00000502843.1:n.-118del
ENST00000675331.1:c.-118del	ENSP00000502031.1:n.-118del
ENST00000675390.1:c.-118del	ENSP00000501969.1:n.-118del
ENST00000675430.1:n.110del
ENST00000675621.1:c.-118del	ENSP00000502117.1:n.-118del
ENST00000675764.1:c.-118del	ENSP00000502242.1:n.-118del
ENST00000676077.1:c.-163-27201del	ENSP00000502507.1:n.-163-27201del
ENST00000676098.1:c.-118del	ENSP00000502735.1:n.-118del
ENST00000676188.1:c.-118del	ENSP00000502577.1:n.-118del
ENST00000676201.1:n.122del
ENST00000676353.1:c.-228del	ENSP00000502737.1:n.-228del
ENST00000676456.1:n.73del
ENST00000397195.9:c.-118del	ENSP00000380378.4:n.-118del
ENST00000570400.1:c.-118del	ENSP00000460258.1:n.-118del
ENST00000571289.1:n.112del
ENST00000572915.6:n.123del
ENST00000574816.5:n.30+28603del
ENST00000575477.5:n.470del
ENST00000576586.5:c.-118del	ENSP00000461087.1:n.-118del
NM_000430.3:c.-118del	NP_000421.1:n.-118del
XM_011523901.1:c.-118del	XP_011522203.1:n.-118del
XM_011523902.1:c.-118del	XP_011522204.1:n.-118del
XM_011523903.1:c.-118del	XP_011522205.1:n.-118del
XM_011523904.1:c.-118del	XP_011522206.1:n.-118del
XM_011523901.2:c.-118del	XP_011522203.1:n.-118del
XM_011523902.3:c.-118del	XP_011522204.1:n.-118del
XM_011523903.2:c.-118del	XP_011522205.1:n.-118del
XM_017024701.1:c.-118del	XP_016880190.1:n.-118del
XM_017024702.2:c.-228del	XP_016880191.1:n.-228del
NM_000430.4:c.-118del MANE Select	NP_000421.1:n.-118del