Canonical Allele Identifier: CA2635320118

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665467-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665471_2665472del , CM000679.2:g.2665471_2665472del	GRCh38
NC_000017.10:g.2568765_2568766del , CM000679.1:g.2568765_2568766del	GRCh37
NC_000017.9:g.2515515_2515516del	NCBI36
NG_009799.1:g.76843_76844del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.117+15_117+16del MANE Select	ENSP00000380378.4:n.117+15_117+16del
ENST00000674608.1:c.171+15_171+16del	ENSP00000501976.1:n.171+15_171+16del
ENST00000674717.1:c.-3-1521_-3-1520del	ENSP00000501931.1:n.-3-1521_-3-1520del
ENST00000675202.1:c.117+15_117+16del	ENSP00000502843.1:n.117+15_117+16del
ENST00000675331.1:c.117+15_117+16del	ENSP00000502031.1:n.117+15_117+16del
ENST00000675390.1:c.117+15_117+16del	ENSP00000501969.1:n.117+15_117+16del
ENST00000675430.1:n.344+15_344+16del
ENST00000675621.1:c.117+15_117+16del	ENSP00000502117.1:n.117+15_117+16del
ENST00000675764.1:c.*71+15_*71+16del	ENSP00000502242.1:n.*71+15_*71+16del
ENST00000676077.1:c.-79+15_-79+16del	ENSP00000502507.1:n.-79+15_-79+16del
ENST00000676098.1:c.117+15_117+16del	ENSP00000502735.1:n.117+15_117+16del
ENST00000676188.1:c.117+15_117+16del	ENSP00000502577.1:n.117+15_117+16del
ENST00000676201.1:n.272-545_272-544del
ENST00000676353.1:c.-78-545_-78-544del	ENSP00000502737.1:n.-78-545_-78-544del
ENST00000676456.1:n.223-545_223-544del
ENST00000397195.9:c.117+15_117+16del	ENSP00000380378.4:n.117+15_117+16del
ENST00000570400.1:c.33-545_33-544del	ENSP00000460258.1:n.33-545_33-544del
ENST00000572915.6:n.273-1521_273-1520del
ENST00000574816.5:n.31-10843_31-10842del
ENST00000575477.5:n.620-545_620-544del
ENST00000576586.5:c.117+15_117+16del	ENSP00000461087.1:n.117+15_117+16del
ENST00000609078.1:n.76+15_76+16del
NM_000430.3:c.117+15_117+16del	NP_000421.1:n.117+15_117+16del
XM_011523901.1:c.171+15_171+16del	XP_011522203.1:n.171+15_171+16del
XM_011523902.1:c.171+15_171+16del	XP_011522204.1:n.171+15_171+16del
XM_011523903.1:c.171+15_171+16del	XP_011522205.1:n.171+15_171+16del
XM_011523904.1:c.171+15_171+16del	XP_011522206.1:n.171+15_171+16del
XM_011523901.2:c.171+15_171+16del	XP_011522203.1:n.171+15_171+16del
XM_011523902.3:c.171+15_171+16del	XP_011522204.1:n.171+15_171+16del
XM_011523903.2:c.171+15_171+16del	XP_011522205.1:n.171+15_171+16del
XM_017024701.1:c.117+15_117+16del	XP_016880190.1:n.117+15_117+16del
XM_017024702.2:c.-78-545_-78-544del	XP_016880191.1:n.-78-545_-78-544del
NM_000430.4:c.117+15_117+16del MANE Select	NP_000421.1:n.117+15_117+16del