Canonical Allele Identifier: CA2576150773

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672653del , CM000679.2:g.2672653del	GRCh38
NC_000017.10:g.2575947del , CM000679.1:g.2575947del	GRCh37
NC_000017.9:g.2522697del	NCBI36
NG_009799.1:g.84025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.569-2del MANE Select	ENSP00000380378.4:n.569-2del
ENST00000571495.2:n.350del
ENST00000674608.1:c.623-2del	ENSP00000501976.1:n.623-2del
ENST00000674717.1:c.374-2del	ENSP00000501931.1:n.374-2del
ENST00000675202.1:c.569-2del	ENSP00000502843.1:n.569-2del
ENST00000675331.1:c.569-2del	ENSP00000502031.1:n.569-2del
ENST00000675390.1:c.569-2del	ENSP00000501969.1:n.569-2del
ENST00000675574.1:n.337del
ENST00000675621.1:c.569-2del	ENSP00000502117.1:n.569-2del
ENST00000675764.1:c.*523-2del	ENSP00000502242.1:n.*523-2del
ENST00000676077.1:c.374-1407del	ENSP00000502507.1:n.374-1407del
ENST00000676098.1:c.569-2del	ENSP00000502735.1:n.569-2del
ENST00000676188.1:c.569-2del	ENSP00000502577.1:n.569-2del
ENST00000676353.1:c.374-2del	ENSP00000502737.1:n.374-2del
ENST00000397193.7:n.377-2del
ENST00000397195.9:c.569-2del	ENSP00000380378.4:n.569-2del
ENST00000572915.6:n.537-2del
ENST00000574468.1:c.65-2del	ENSP00000460591.1:n.65-2del
ENST00000574816.5:n.31-3661del
NM_000430.3:c.569-2del	NP_000421.1:n.569-2del
XM_011523901.1:c.623-2del	XP_011522203.1:n.623-2del
XM_011523902.1:c.623-2del	XP_011522204.1:n.623-2del
XM_011523903.1:c.623-2del	XP_011522205.1:n.623-2del
XM_011523904.1:c.623-1407del	XP_011522206.1:n.623-1407del
XM_011523901.2:c.623-2del	XP_011522203.1:n.623-2del
XM_011523902.3:c.623-2del	XP_011522204.1:n.623-2del
XM_011523903.2:c.623-2del	XP_011522205.1:n.623-2del
XM_017024701.1:c.569-2del	XP_016880190.1:n.569-2del
XM_017024702.2:c.374-2del	XP_016880191.1:n.374-2del
NM_000430.4:c.569-2del MANE Select	NP_000421.1:n.569-2del