Canonical Allele Identifier: CA2243492510

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676560_2676565delinsCTATTA , CM000679.2:g.2676560_2676565delinsCTATTA	GRCh38
NC_000017.10:g.2579854_2579859delinsCTATTA , CM000679.1:g.2579854_2579859delinsCTATTA	GRCh37
NC_000017.9:g.2526604_2526609delinsCTATTA	NCBI36
NG_009799.1:g.87932_87937delinsCTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.956_961delinsCTATTA MANE Select	ENSP00000380378.4:p.Thr319=
ENST00000571495.2:n.2041_2046delinsCTATTA
ENST00000674608.1:c.1010_1015delinsCTATTA	ENSP00000501976.1:p.Thr337=
ENST00000674717.1:c.761_766delinsCTATTA	ENSP00000501931.1:p.Thr254=
ENST00000675084.1:n.210_215delinsCTATTA
ENST00000675202.1:c.956_961delinsCTATTA	ENSP00000502843.1:p.Thr319=
ENST00000675331.1:c.956_961delinsCTATTA	ENSP00000502031.1:p.Thr319=
ENST00000675385.1:n.570_575delinsCTATTA
ENST00000675390.1:c.956_961delinsCTATTA	ENSP00000501969.1:p.Thr319=
ENST00000675574.1:n.4011_4016delinsCTATTA
ENST00000675621.1:c.956_961delinsCTATTA	ENSP00000502117.1:p.Thr319=
ENST00000675764.1:c.*910_*915delinsCTATTA	ENSP00000502242.1:n.*910_*915delinsCTATTA
ENST00000676077.1:c.*274_*279delinsCTATTA	ENSP00000502507.1:n.*274_*279delinsCTATTA
ENST00000676098.1:c.956_961delinsCTATTA	ENSP00000502735.1:p.Thr319=
ENST00000676188.1:c.956_961delinsCTATTA	ENSP00000502577.1:p.Thr319=
ENST00000676353.1:c.761_766delinsCTATTA	ENSP00000502737.1:p.Thr254=
ENST00000397193.7:n.764_769delinsCTATTA
ENST00000397195.9:c.956_961delinsCTATTA	ENSP00000380378.4:p.Thr319=
ENST00000571495.1:n.680_685delinsCTATTA
ENST00000572915.6:n.676+2464_676+2469delinsCTATTA
ENST00000574468.1:c.396+2272_396+2277delinsCTATTA	ENSP00000460591.1:n.396+2272_396+2277delinsCTATTA
ENST00000574816.5:n.277_282delinsCTATTA
NM_000430.3:c.956_961delinsCTATTA	NP_000421.1:p.Thr319=
XM_011523901.1:c.1010_1015delinsCTATTA	XP_011522203.1:p.Thr337=
XM_011523902.1:c.1010_1015delinsCTATTA	XP_011522204.1:p.Thr337=
XM_011523903.1:c.1010_1015delinsCTATTA	XP_011522205.1:p.Thr337=
XM_011523901.2:c.1010_1015delinsCTATTA	XP_011522203.1:p.Thr337=
XM_011523902.3:c.1010_1015delinsCTATTA	XP_011522204.1:p.Thr337=
XM_011523903.2:c.1010_1015delinsCTATTA	XP_011522205.1:p.Thr337=
XM_017024701.1:c.956_961delinsCTATTA	XP_016880190.1:p.Thr319=
XM_017024702.2:c.761_766delinsCTATTA	XP_016880191.1:p.Thr254=
NM_000430.4:c.956_961delinsCTATTA MANE Select	NP_000421.1:p.Thr319=