Canonical Allele Identifier: CA980774457

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1478954865
• gnomAD v3: 17-2665273-A-AAG
• gnomAD v4: 17-2665273-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665276_2665277dup , CM000679.2:g.2665276_2665277dup	GRCh38
NC_000017.10:g.2568570_2568571dup , CM000679.1:g.2568570_2568571dup	GRCh37
NC_000017.9:g.2515320_2515321dup	NCBI36
NG_009799.1:g.76648_76649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.33-96_33-95dup MANE Select	ENSP00000380378.4:n.33-96_33-95dup
ENST00000674608.1:c.87-96_87-95dup	ENSP00000501976.1:n.87-96_87-95dup
ENST00000674717.1:c.-3-1716_-3-1715dup	ENSP00000501931.1:n.-3-1716_-3-1715dup
ENST00000675202.1:c.33-96_33-95dup	ENSP00000502843.1:n.33-96_33-95dup
ENST00000675331.1:c.33-96_33-95dup	ENSP00000502031.1:n.33-96_33-95dup
ENST00000675390.1:c.33-96_33-95dup	ENSP00000501969.1:n.33-96_33-95dup
ENST00000675430.1:n.260-96_260-95dup
ENST00000675621.1:c.33-96_33-95dup	ENSP00000502117.1:n.33-96_33-95dup
ENST00000675764.1:c.131-96_131-95dup	ENSP00000502242.1:n.131-96_131-95dup
ENST00000676077.1:c.-163-96_-163-95dup	ENSP00000502507.1:n.-163-96_-163-95dup
ENST00000676098.1:c.33-96_33-95dup	ENSP00000502735.1:n.33-96_33-95dup
ENST00000676188.1:c.33-96_33-95dup	ENSP00000502577.1:n.33-96_33-95dup
ENST00000676201.1:n.272-740_272-739dup
ENST00000676353.1:c.-78-740_-78-739dup	ENSP00000502737.1:n.-78-740_-78-739dup
ENST00000676456.1:n.223-740_223-739dup
ENST00000397195.9:c.33-96_33-95dup	ENSP00000380378.4:n.33-96_33-95dup
ENST00000570400.1:c.33-740_33-739dup	ENSP00000460258.1:n.33-740_33-739dup
ENST00000572915.6:n.273-1716_273-1715dup
ENST00000574816.5:n.31-11038_31-11037dup
ENST00000575477.5:n.620-740_620-739dup
ENST00000576586.5:c.33-96_33-95dup	ENSP00000461087.1:n.33-96_33-95dup
NM_000430.3:c.33-96_33-95dup	NP_000421.1:n.33-96_33-95dup
XM_011523901.1:c.87-96_87-95dup	XP_011522203.1:n.87-96_87-95dup
XM_011523902.1:c.87-96_87-95dup	XP_011522204.1:n.87-96_87-95dup
XM_011523903.1:c.87-96_87-95dup	XP_011522205.1:n.87-96_87-95dup
XM_011523904.1:c.87-96_87-95dup	XP_011522206.1:n.87-96_87-95dup
XM_011523901.2:c.87-96_87-95dup	XP_011522203.1:n.87-96_87-95dup
XM_011523902.3:c.87-96_87-95dup	XP_011522204.1:n.87-96_87-95dup
XM_011523903.2:c.87-96_87-95dup	XP_011522205.1:n.87-96_87-95dup
XM_017024701.1:c.33-96_33-95dup	XP_016880190.1:n.33-96_33-95dup
XM_017024702.2:c.-78-740_-78-739dup	XP_016880191.1:n.-78-740_-78-739dup
NM_000430.4:c.33-96_33-95dup MANE Select	NP_000421.1:n.33-96_33-95dup