Canonical Allele Identifier: CA2243487290

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665453_2665456delinsTGTG , CM000679.2:g.2665453_2665456delinsTGTG	GRCh38
NC_000017.10:g.2568747_2568750delinsTGTG , CM000679.1:g.2568747_2568750delinsTGTG	GRCh37
NC_000017.9:g.2515497_2515500delinsTGTG	NCBI36
NG_009799.1:g.76825_76828delinsTGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.114_117delinsTGTG MANE Select	ENSP00000380378.4:p.Asp38=
ENST00000674608.1:c.168_171delinsTGTG	ENSP00000501976.1:p.Asp56=
ENST00000674717.1:c.-3-1539_-3-1536delinsTGTG	ENSP00000501931.1:n.-3-1539_-3-1536delins...
ENST00000675202.1:c.114_117delinsTGTG	ENSP00000502843.1:p.Asp38=
ENST00000675331.1:c.114_117delinsTGTG	ENSP00000502031.1:p.Asp38=
ENST00000675390.1:c.114_117delinsTGTG	ENSP00000501969.1:p.Asp38=
ENST00000675430.1:n.341_344delinsTGTG
ENST00000675621.1:c.114_117delinsTGTG	ENSP00000502117.1:p.Asp38=
ENST00000675764.1:c.*68_*71delinsTGTG	ENSP00000502242.1:n.*68_*71delinsTGTG
ENST00000676077.1:c.-82_-79delinsTGTG	ENSP00000502507.1:n.-82_-79delinsTGTG
ENST00000676098.1:c.114_117delinsTGTG	ENSP00000502735.1:p.Asp38=
ENST00000676188.1:c.114_117delinsTGTG	ENSP00000502577.1:p.Asp38=
ENST00000676201.1:n.272-563_272-560delinsTGTG
ENST00000676353.1:c.-78-563_-78-560delinsTGTG	ENSP00000502737.1:n.-78-563_-78-560delins...
ENST00000676456.1:n.223-563_223-560delinsTGTG
ENST00000397195.9:c.114_117delinsTGTG	ENSP00000380378.4:p.Asp38=
ENST00000570400.1:c.33-563_33-560delinsTGTG	ENSP00000460258.1:n.33-563_33-560delinsTG...
ENST00000572915.6:n.273-1539_273-1536delinsTGTG
ENST00000574816.5:n.31-10861_31-10858delinsTGTG
ENST00000575477.5:n.620-563_620-560delinsTGTG
ENST00000576586.5:c.114_117delinsTGTG	ENSP00000461087.1:p.Asp38=
ENST00000609078.1:n.73_76delinsTGTG
NM_000430.3:c.114_117delinsTGTG	NP_000421.1:p.Asp38=
XM_011523901.1:c.168_171delinsTGTG	XP_011522203.1:p.Asp56=
XM_011523902.1:c.168_171delinsTGTG	XP_011522204.1:p.Asp56=
XM_011523903.1:c.168_171delinsTGTG	XP_011522205.1:p.Asp56=
XM_011523904.1:c.168_171delinsTGTG	XP_011522206.1:p.Asp56=
XM_011523901.2:c.168_171delinsTGTG	XP_011522203.1:p.Asp56=
XM_011523902.3:c.168_171delinsTGTG	XP_011522204.1:p.Asp56=
XM_011523903.2:c.168_171delinsTGTG	XP_011522205.1:p.Asp56=
XM_017024701.1:c.114_117delinsTGTG	XP_016880190.1:p.Asp38=
XM_017024702.2:c.-78-563_-78-560delinsTGTG	XP_016880191.1:n.-78-563_-78-560delinsTGT...
NM_000430.4:c.114_117delinsTGTG MANE Select	NP_000421.1:p.Asp38=