Canonical Allele Identifier: CA2243491390

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674108_2674109delinsAC , CM000679.2:g.2674108_2674109delinsAC	GRCh38
NC_000017.10:g.2577402_2577403delinsAC , CM000679.1:g.2577402_2577403delinsAC	GRCh37
NC_000017.9:g.2524152_2524153delinsAC	NCBI36
NG_009799.1:g.85480_85481delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.720_721delinsAC MANE Select	ENSP00000380378.4:p.Val240=
ENST00000571495.2:n.1805_1806delinsAC
ENST00000674608.1:c.774_775delinsAC	ENSP00000501976.1:p.Val258=
ENST00000674717.1:c.525_526delinsAC	ENSP00000501931.1:p.Val175=
ENST00000675202.1:c.720_721delinsAC	ENSP00000502843.1:p.Val240=
ENST00000675331.1:c.720_721delinsAC	ENSP00000502031.1:p.Val240=
ENST00000675390.1:c.720_721delinsAC	ENSP00000501969.1:p.Val240=
ENST00000675574.1:n.1792_1793delinsAC
ENST00000675621.1:c.720_721delinsAC	ENSP00000502117.1:p.Val240=
ENST00000675764.1:c.*674_*675delinsAC	ENSP00000502242.1:n.*674_*675delinsAC
ENST00000676077.1:c.*38_*39delinsAC	ENSP00000502507.1:n.*38_*39delinsAC
ENST00000676098.1:c.720_721delinsAC	ENSP00000502735.1:p.Val240=
ENST00000676188.1:c.720_721delinsAC	ENSP00000502577.1:p.Val240=
ENST00000676353.1:c.525_526delinsAC	ENSP00000502737.1:p.Val175=
ENST00000397193.7:n.528_529delinsAC
ENST00000397195.9:c.720_721delinsAC	ENSP00000380378.4:p.Val240=
ENST00000571495.1:n.444_445delinsAC
ENST00000572915.6:n.676+12_676+13delinsAC
ENST00000574468.1:c.216_217delinsAC	ENSP00000460591.1:p.Val72=
ENST00000574816.5:n.31-2206_31-2205delinsAC
NM_000430.3:c.720_721delinsAC	NP_000421.1:p.Val240=
XM_011523901.1:c.774_775delinsAC	XP_011522203.1:p.Val258=
XM_011523902.1:c.774_775delinsAC	XP_011522204.1:p.Val258=
XM_011523903.1:c.774_775delinsAC	XP_011522205.1:p.Val258=
XM_011523904.1:c.*38_*39delinsAC	XP_011522206.1:n.*38_*39delinsAC
XM_011523901.2:c.774_775delinsAC	XP_011522203.1:p.Val258=
XM_011523902.3:c.774_775delinsAC	XP_011522204.1:p.Val258=
XM_011523903.2:c.774_775delinsAC	XP_011522205.1:p.Val258=
XM_017024701.1:c.720_721delinsAC	XP_016880190.1:p.Val240=
XM_017024702.2:c.525_526delinsAC	XP_016880191.1:p.Val175=
NM_000430.4:c.720_721delinsAC MANE Select	NP_000421.1:p.Val240=