Canonical Allele Identifier: CA2243492490

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676507_2676511delinsTAAAA , CM000679.2:g.2676507_2676511delinsTAAAA	GRCh38
NC_000017.10:g.2579801_2579805delinsTAAAA , CM000679.1:g.2579801_2579805delinsTAAAA	GRCh37
NC_000017.9:g.2526551_2526555delinsTAAAA	NCBI36
NG_009799.1:g.87879_87883delinsTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.903_907delinsTAAAA MANE Select	ENSP00000380378.4:p.Thr301=
ENST00000571495.2:n.1988_1992delinsTAAAA
ENST00000674608.1:c.957_961delinsTAAAA	ENSP00000501976.1:p.Thr319=
ENST00000674717.1:c.708_712delinsTAAAA	ENSP00000501931.1:p.Thr236=
ENST00000675084.1:n.157_161delinsTAAAA
ENST00000675202.1:c.903_907delinsTAAAA	ENSP00000502843.1:p.Thr301=
ENST00000675331.1:c.903_907delinsTAAAA	ENSP00000502031.1:p.Thr301=
ENST00000675385.1:n.517_521delinsTAAAA
ENST00000675390.1:c.903_907delinsTAAAA	ENSP00000501969.1:p.Thr301=
ENST00000675574.1:n.3958_3962delinsTAAAA
ENST00000675621.1:c.903_907delinsTAAAA	ENSP00000502117.1:p.Thr301=
ENST00000675764.1:c.*857_*861delinsTAAAA	ENSP00000502242.1:n.*857_*861delinsTAAAA
ENST00000676077.1:c.*221_*225delinsTAAAA	ENSP00000502507.1:n.*221_*225delinsTAAAA
ENST00000676098.1:c.903_907delinsTAAAA	ENSP00000502735.1:p.Thr301=
ENST00000676188.1:c.903_907delinsTAAAA	ENSP00000502577.1:p.Thr301=
ENST00000676353.1:c.708_712delinsTAAAA	ENSP00000502737.1:p.Thr236=
ENST00000397193.7:n.711_715delinsTAAAA
ENST00000397195.9:c.903_907delinsTAAAA	ENSP00000380378.4:p.Thr301=
ENST00000571495.1:n.627_631delinsTAAAA
ENST00000572915.6:n.676+2411_676+2415delinsTAAAA
ENST00000574468.1:c.396+2219_396+2223delinsTAAAA	ENSP00000460591.1:n.396+2219_396+2223delinsTAAAA
ENST00000574816.5:n.224_228delinsTAAAA
NM_000430.3:c.903_907delinsTAAAA	NP_000421.1:p.Thr301=
XM_011523901.1:c.957_961delinsTAAAA	XP_011522203.1:p.Thr319=
XM_011523902.1:c.957_961delinsTAAAA	XP_011522204.1:p.Thr319=
XM_011523903.1:c.957_961delinsTAAAA	XP_011522205.1:p.Thr319=
XM_011523901.2:c.957_961delinsTAAAA	XP_011522203.1:p.Thr319=
XM_011523902.3:c.957_961delinsTAAAA	XP_011522204.1:p.Thr319=
XM_011523903.2:c.957_961delinsTAAAA	XP_011522205.1:p.Thr319=
XM_017024701.1:c.903_907delinsTAAAA	XP_016880190.1:p.Thr301=
XM_017024702.2:c.708_712delinsTAAAA	XP_016880191.1:p.Thr236=
NM_000430.4:c.903_907delinsTAAAA MANE Select	NP_000421.1:p.Thr301=