Canonical Allele Identifier: CA2635320047

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2665260-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665261_2665262del , CM000679.2:g.2665261_2665262del	GRCh38
NC_000017.10:g.2568555_2568556del , CM000679.1:g.2568555_2568556del	GRCh37
NC_000017.9:g.2515305_2515306del	NCBI36
NG_009799.1:g.76633_76634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.33-111_33-110del MANE Select	ENSP00000380378.4:n.33-111_33-110del
ENST00000674608.1:c.87-111_87-110del	ENSP00000501976.1:n.87-111_87-110del
ENST00000674717.1:c.-3-1731_-3-1730del	ENSP00000501931.1:n.-3-1731_-3-1730del
ENST00000675202.1:c.33-111_33-110del	ENSP00000502843.1:n.33-111_33-110del
ENST00000675331.1:c.33-111_33-110del	ENSP00000502031.1:n.33-111_33-110del
ENST00000675390.1:c.33-111_33-110del	ENSP00000501969.1:n.33-111_33-110del
ENST00000675430.1:n.260-111_260-110del
ENST00000675621.1:c.33-111_33-110del	ENSP00000502117.1:n.33-111_33-110del
ENST00000675764.1:c.131-111_131-110del	ENSP00000502242.1:n.131-111_131-110del
ENST00000676077.1:c.-163-111_-163-110del	ENSP00000502507.1:n.-163-111_-163-110del
ENST00000676098.1:c.33-111_33-110del	ENSP00000502735.1:n.33-111_33-110del
ENST00000676188.1:c.33-111_33-110del	ENSP00000502577.1:n.33-111_33-110del
ENST00000676201.1:n.272-755_272-754del
ENST00000676353.1:c.-78-755_-78-754del	ENSP00000502737.1:n.-78-755_-78-754del
ENST00000676456.1:n.223-755_223-754del
ENST00000397195.9:c.33-111_33-110del	ENSP00000380378.4:n.33-111_33-110del
ENST00000570400.1:c.33-755_33-754del	ENSP00000460258.1:n.33-755_33-754del
ENST00000572915.6:n.273-1731_273-1730del
ENST00000574816.5:n.31-11053_31-11052del
ENST00000575477.5:n.620-755_620-754del
ENST00000576586.5:c.33-111_33-110del	ENSP00000461087.1:n.33-111_33-110del
NM_000430.3:c.33-111_33-110del	NP_000421.1:n.33-111_33-110del
XM_011523901.1:c.87-111_87-110del	XP_011522203.1:n.87-111_87-110del
XM_011523902.1:c.87-111_87-110del	XP_011522204.1:n.87-111_87-110del
XM_011523903.1:c.87-111_87-110del	XP_011522205.1:n.87-111_87-110del
XM_011523904.1:c.87-111_87-110del	XP_011522206.1:n.87-111_87-110del
XM_011523901.2:c.87-111_87-110del	XP_011522203.1:n.87-111_87-110del
XM_011523902.3:c.87-111_87-110del	XP_011522204.1:n.87-111_87-110del
XM_011523903.2:c.87-111_87-110del	XP_011522205.1:n.87-111_87-110del
XM_017024701.1:c.33-111_33-110del	XP_016880190.1:n.33-111_33-110del
XM_017024702.2:c.-78-755_-78-754del	XP_016880191.1:n.-78-755_-78-754del
NM_000430.4:c.33-111_33-110del MANE Select	NP_000421.1:n.33-111_33-110del