Canonical Allele Identifier: CA2243487599

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666073_2666074delinsAT , CM000679.2:g.2666073_2666074delinsAT	GRCh38
NC_000017.10:g.2569367_2569368delinsAT , CM000679.1:g.2569367_2569368delinsAT	GRCh37
NC_000017.9:g.2516117_2516118delinsAT	NCBI36
NG_009799.1:g.77445_77446delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.175_176delinsAT MANE Select	ENSP00000380378.4:p.Ile59=
ENST00000674608.1:c.229_230delinsAT	ENSP00000501976.1:p.Ile77=
ENST00000674717.1:c.-3-919_-3-918delinsAT	ENSP00000501931.1:n.-3-919_-3-918delinsAT...
ENST00000675202.1:c.175_176delinsAT	ENSP00000502843.1:p.Ile59=
ENST00000675331.1:c.175_176delinsAT	ENSP00000502031.1:p.Ile59=
ENST00000675390.1:c.175_176delinsAT	ENSP00000501969.1:p.Ile59=
ENST00000675430.1:n.402_403delinsAT
ENST00000675621.1:c.175_176delinsAT	ENSP00000502117.1:p.Ile59=
ENST00000675764.1:c.*129_*130delinsAT	ENSP00000502242.1:n.*129_*130delinsAT
ENST00000676077.1:c.-21_-20delinsAT	ENSP00000502507.1:n.-21_-20delinsAT
ENST00000676098.1:c.175_176delinsAT	ENSP00000502735.1:p.Ile59=
ENST00000676188.1:c.175_176delinsAT	ENSP00000502577.1:p.Ile59=
ENST00000676201.1:n.329_330delinsAT
ENST00000676353.1:c.-21_-20delinsAT	ENSP00000502737.1:n.-21_-20delinsAT
ENST00000676456.1:n.280_281delinsAT
ENST00000397195.9:c.175_176delinsAT	ENSP00000380378.4:p.Ile59=
ENST00000570400.1:c.*45_*46delinsAT	ENSP00000460258.1:n.*45_*46delinsAT
ENST00000572915.6:n.273-919_273-918delinsAT
ENST00000574816.5:n.31-10241_31-10240delinsAT
ENST00000575477.5:n.677_678delinsAT
ENST00000576586.5:c.175_176delinsAT	ENSP00000461087.1:p.Ile59=
ENST00000609078.1:n.134_135delinsAT
NM_000430.3:c.175_176delinsAT	NP_000421.1:p.Ile59=
XM_011523901.1:c.229_230delinsAT	XP_011522203.1:p.Ile77=
XM_011523902.1:c.229_230delinsAT	XP_011522204.1:p.Ile77=
XM_011523903.1:c.229_230delinsAT	XP_011522205.1:p.Ile77=
XM_011523904.1:c.229_230delinsAT	XP_011522206.1:p.Ile77=
XM_011523901.2:c.229_230delinsAT	XP_011522203.1:p.Ile77=
XM_011523902.3:c.229_230delinsAT	XP_011522204.1:p.Ile77=
XM_011523903.2:c.229_230delinsAT	XP_011522205.1:p.Ile77=
XM_017024701.1:c.175_176delinsAT	XP_016880190.1:p.Ile59=
XM_017024702.2:c.-21_-20delinsAT	XP_016880191.1:n.-21_-20delinsAT
NM_000430.4:c.175_176delinsAT MANE Select	NP_000421.1:p.Ile59=