Canonical Allele Identifier: CA2635320112

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665401-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665404del , CM000679.2:g.2665404del	GRCh38
NC_000017.10:g.2568698del , CM000679.1:g.2568698del	GRCh37
NC_000017.9:g.2515448del	NCBI36
NG_009799.1:g.76776del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.65del MANE Select	ENSP00000380378.4:p.Asn22MetfsTer16
ENST00000674608.1:c.119del	ENSP00000501976.1:p.Asn40MetfsTer16
ENST00000674717.1:c.-3-1588del	ENSP00000501931.1:n.-3-1588del
ENST00000675202.1:c.65del	ENSP00000502843.1:p.Asn22MetfsTer16
ENST00000675331.1:c.65del	ENSP00000502031.1:p.Asn22MetfsTer16
ENST00000675390.1:c.65del	ENSP00000501969.1:p.Asn22MetfsTer16
ENST00000675430.1:n.292del
ENST00000675621.1:c.65del	ENSP00000502117.1:p.Asn22MetfsTer16
ENST00000675764.1:c.*19del	ENSP00000502242.1:n.*19del
ENST00000676077.1:c.-131del	ENSP00000502507.1:n.-131del
ENST00000676098.1:c.65del	ENSP00000502735.1:p.Asn22MetfsTer16
ENST00000676188.1:c.65del	ENSP00000502577.1:p.Asn22MetfsTer16
ENST00000676201.1:n.272-612del
ENST00000676353.1:c.-78-612del	ENSP00000502737.1:n.-78-612del
ENST00000676456.1:n.223-612del
ENST00000397195.9:c.65del	ENSP00000380378.4:p.Asn22MetfsTer16
ENST00000570400.1:c.33-612del	ENSP00000460258.1:n.33-612del
ENST00000572915.6:n.273-1588del
ENST00000574816.5:n.31-10910del
ENST00000575477.5:n.620-612del
ENST00000576586.5:c.65del	ENSP00000461087.1:p.Asn22MetfsTer16
ENST00000609078.1:n.24del
NM_000430.3:c.65del	NP_000421.1:p.Asn22MetfsTer16
XM_011523901.1:c.119del	XP_011522203.1:p.Asn40MetfsTer16
XM_011523902.1:c.119del	XP_011522204.1:p.Asn40MetfsTer16
XM_011523903.1:c.119del	XP_011522205.1:p.Asn40MetfsTer16
XM_011523904.1:c.119del	XP_011522206.1:p.Asn40MetfsTer16
XM_011523901.2:c.119del	XP_011522203.1:p.Asn40MetfsTer16
XM_011523902.3:c.119del	XP_011522204.1:p.Asn40MetfsTer16
XM_011523903.2:c.119del	XP_011522205.1:p.Asn40MetfsTer16
XM_017024701.1:c.65del	XP_016880190.1:p.Asn22MetfsTer16
XM_017024702.2:c.-78-612del	XP_016880191.1:n.-78-612del
NM_000430.4:c.65del MANE Select	NP_000421.1:p.Asn22MetfsTer16