Canonical Allele Identifier: CA2243487356

Gene: PAFAH1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665590_2665594delinsCTTTT , CM000679.2:g.2665590_2665594delinsCTTTT	GRCh38
NC_000017.10:g.2568884_2568888delinsCTTTT , CM000679.1:g.2568884_2568888delinsCTTTT	GRCh37
NC_000017.9:g.2515634_2515638delinsCTTTT	NCBI36
NG_009799.1:g.76962_76966delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.117+134_117+138delinsCTTTT MANE Select	ENSP00000380378.4:n.117+134_117+138delinsCTTTT
ENST00000674608.1:c.171+134_171+138delinsCTTTT	ENSP00000501976.1:n.171+134_171+138delinsCTTTT
ENST00000674717.1:c.-3-1402_-3-1398delinsCTTTT	ENSP00000501931.1:n.-3-1402_-3-1398delinsCTTTT
ENST00000675202.1:c.117+134_117+138delinsCTTTT	ENSP00000502843.1:n.117+134_117+138delinsCTTTT
ENST00000675331.1:c.117+134_117+138delinsCTTTT	ENSP00000502031.1:n.117+134_117+138delinsCTTTT
ENST00000675390.1:c.117+134_117+138delinsCTTTT	ENSP00000501969.1:n.117+134_117+138delinsCTTTT
ENST00000675430.1:n.344+134_344+138delinsCTTTT
ENST00000675621.1:c.117+134_117+138delinsCTTTT	ENSP00000502117.1:n.117+134_117+138delinsCTTTT
ENST00000675764.1:c.*71+134_*71+138delinsCTTTT	ENSP00000502242.1:n.*71+134_*71+138delinsCTTTT
ENST00000676077.1:c.-79+134_-79+138delinsCTTTT	ENSP00000502507.1:n.-79+134_-79+138delinsCTTTT
ENST00000676098.1:c.117+134_117+138delinsCTTTT	ENSP00000502735.1:n.117+134_117+138delinsCTTTT
ENST00000676188.1:c.117+134_117+138delinsCTTTT	ENSP00000502577.1:n.117+134_117+138delinsCTTTT
ENST00000676201.1:n.272-426_272-422delinsCTTTT
ENST00000676353.1:c.-78-426_-78-422delinsCTTTT	ENSP00000502737.1:n.-78-426_-78-422delinsCTTTT
ENST00000676456.1:n.223-426_223-422delinsCTTTT
ENST00000397195.9:c.117+134_117+138delinsCTTTT	ENSP00000380378.4:n.117+134_117+138delinsCTTTT
ENST00000570400.1:c.33-426_33-422delinsCTTTT	ENSP00000460258.1:n.33-426_33-422delinsCTTTT
ENST00000572915.6:n.273-1402_273-1398delinsCTTTT
ENST00000574816.5:n.31-10724_31-10720delinsCTTTT
ENST00000575477.5:n.620-426_620-422delinsCTTTT
ENST00000576586.5:c.117+134_117+138delinsCTTTT	ENSP00000461087.1:n.117+134_117+138delinsCTTTT
ENST00000609078.1:n.76+134_76+138delinsCTTTT
NM_000430.3:c.117+134_117+138delinsCTTTT	NP_000421.1:n.117+134_117+138delinsCTTTT
XM_011523901.1:c.171+134_171+138delinsCTTTT	XP_011522203.1:n.171+134_171+138delinsCTTTT
XM_011523902.1:c.171+134_171+138delinsCTTTT	XP_011522204.1:n.171+134_171+138delinsCTTTT
XM_011523903.1:c.171+134_171+138delinsCTTTT	XP_011522205.1:n.171+134_171+138delinsCTTTT
XM_011523904.1:c.171+134_171+138delinsCTTTT	XP_011522206.1:n.171+134_171+138delinsCTTTT
XM_011523901.2:c.171+134_171+138delinsCTTTT	XP_011522203.1:n.171+134_171+138delinsCTTTT
XM_011523902.3:c.171+134_171+138delinsCTTTT	XP_011522204.1:n.171+134_171+138delinsCTTTT
XM_011523903.2:c.171+134_171+138delinsCTTTT	XP_011522205.1:n.171+134_171+138delinsCTTTT
XM_017024701.1:c.117+134_117+138delinsCTTTT	XP_016880190.1:n.117+134_117+138delinsCTTTT
XM_017024702.2:c.-78-426_-78-422delinsCTTTT	XP_016880191.1:n.-78-426_-78-422delinsCTTTT
NM_000430.4:c.117+134_117+138delinsCTTTT MANE Select	NP_000421.1:n.117+134_117+138delinsCTTTT