Canonical Allele Identifier: CA2243490706

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672730_2672732delinsCTA , CM000679.2:g.2672730_2672732delinsCTA	GRCh38
NC_000017.10:g.2576024_2576026delinsCTA , CM000679.1:g.2576024_2576026delinsCTA	GRCh37
NC_000017.9:g.2522774_2522776delinsCTA	NCBI36
NG_009799.1:g.84102_84104delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.644_646delinsCTA MANE Select	ENSP00000380378.4:p.Thr215=
ENST00000571495.2:n.427_429delinsCTA
ENST00000674608.1:c.698_700delinsCTA	ENSP00000501976.1:p.Thr233=
ENST00000674717.1:c.449_451delinsCTA	ENSP00000501931.1:p.Thr150=
ENST00000675202.1:c.644_646delinsCTA	ENSP00000502843.1:p.Thr215=
ENST00000675331.1:c.644_646delinsCTA	ENSP00000502031.1:p.Thr215=
ENST00000675390.1:c.644_646delinsCTA	ENSP00000501969.1:p.Thr215=
ENST00000675574.1:n.414_416delinsCTA
ENST00000675621.1:c.644_646delinsCTA	ENSP00000502117.1:p.Thr215=
ENST00000675764.1:c.*598_*600delinsCTA	ENSP00000502242.1:n.*598_*600delinsCTA
ENST00000676077.1:c.374-1330_374-1328delinsCTA	ENSP00000502507.1:n.374-1330_374-1328delinsCTA
ENST00000676098.1:c.644_646delinsCTA	ENSP00000502735.1:p.Thr215=
ENST00000676188.1:c.644_646delinsCTA	ENSP00000502577.1:p.Thr215=
ENST00000676353.1:c.449_451delinsCTA	ENSP00000502737.1:p.Thr150=
ENST00000397193.7:n.452_454delinsCTA
ENST00000397195.9:c.644_646delinsCTA	ENSP00000380378.4:p.Thr215=
ENST00000572915.6:n.612_614delinsCTA
ENST00000574468.1:c.140_142delinsCTA	ENSP00000460591.1:p.Thr47=
ENST00000574816.5:n.31-3584_31-3582delinsCTA
NM_000430.3:c.644_646delinsCTA	NP_000421.1:p.Thr215=
XM_011523901.1:c.698_700delinsCTA	XP_011522203.1:p.Thr233=
XM_011523902.1:c.698_700delinsCTA	XP_011522204.1:p.Thr233=
XM_011523903.1:c.698_700delinsCTA	XP_011522205.1:p.Thr233=
XM_011523904.1:c.623-1330_623-1328delinsCTA	XP_011522206.1:n.623-1330_623-1328delinsCTA
XM_011523901.2:c.698_700delinsCTA	XP_011522203.1:p.Thr233=
XM_011523902.3:c.698_700delinsCTA	XP_011522204.1:p.Thr233=
XM_011523903.2:c.698_700delinsCTA	XP_011522205.1:p.Thr233=
XM_017024701.1:c.644_646delinsCTA	XP_016880190.1:p.Thr215=
XM_017024702.2:c.449_451delinsCTA	XP_016880191.1:p.Thr150=
NM_000430.4:c.644_646delinsCTA MANE Select	NP_000421.1:p.Thr215=