Canonical Allele Identifier: CA624508834

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1325844564
• gnomAD v2: 17-2569310-A-AACT
• gnomAD v4: 17-2666016-A-AACT
• MyVariant Identifiers: chr17:g.2569310_2569311insACT (hg19) ; chr17:g.2666016_2666017insACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666017_2666018insCTA , CM000679.2:g.2666017_2666018insCTA	GRCh38
NC_000017.10:g.2569311_2569312insCTA , CM000679.1:g.2569311_2569312insCTA	GRCh37
NC_000017.9:g.2516061_2516062insCTA	NCBI36
NG_009799.1:g.77389_77390insCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.119_120insCTA MANE Select	ENSP00000380378.4:p.Asn40_Glu41insTyr
ENST00000674608.1:c.173_174insCTA	ENSP00000501976.1:p.Asn58_Glu59insTyr
ENST00000674717.1:c.-3-975_-3-974insCTA	ENSP00000501931.1:n.-3-975_-3-974insCTA
ENST00000675202.1:c.119_120insCTA	ENSP00000502843.1:p.Asn40_Glu41insTyr
ENST00000675331.1:c.119_120insCTA	ENSP00000502031.1:p.Asn40_Glu41insTyr
ENST00000675390.1:c.119_120insCTA	ENSP00000501969.1:p.Asn40_Glu41insTyr
ENST00000675430.1:n.346_347insCTA
ENST00000675621.1:c.119_120insCTA	ENSP00000502117.1:p.Asn40_Glu41insTyr
ENST00000675764.1:c.*73_*74insCTA	ENSP00000502242.1:n.*73_*74insCTA
ENST00000676077.1:c.-77_-76insCTA	ENSP00000502507.1:n.-77_-76insCTA
ENST00000676098.1:c.119_120insCTA	ENSP00000502735.1:p.Asn40_Glu41insTyr
ENST00000676188.1:c.119_120insCTA	ENSP00000502577.1:p.Asn40_Glu41insTyr
ENST00000676201.1:n.273_274insCTA
ENST00000676353.1:c.-77_-76insCTA	ENSP00000502737.1:n.-77_-76insCTA
ENST00000676456.1:n.224_225insCTA
ENST00000397195.9:c.119_120insCTA	ENSP00000380378.4:p.Asn40_Glu41insTyr
ENST00000570400.1:c.34_35insCTA	ENSP00000460258.1:p.Leu11_Met12insThr
ENST00000572915.6:n.273-975_273-974insCTA
ENST00000574816.5:n.31-10297_31-10296insCTA
ENST00000575477.5:n.621_622insCTA
ENST00000576586.5:c.119_120insCTA	ENSP00000461087.1:p.Asn40_Glu41insTyr
ENST00000609078.1:n.78_79insCTA
NM_000430.3:c.119_120insCTA	NP_000421.1:p.Asn40_Glu41insTyr
XM_011523901.1:c.173_174insCTA	XP_011522203.1:p.Asn58_Glu59insTyr
XM_011523902.1:c.173_174insCTA	XP_011522204.1:p.Asn58_Glu59insTyr
XM_011523903.1:c.173_174insCTA	XP_011522205.1:p.Asn58_Glu59insTyr
XM_011523904.1:c.173_174insCTA	XP_011522206.1:p.Asn58_Glu59insTyr
XM_011523901.2:c.173_174insCTA	XP_011522203.1:p.Asn58_Glu59insTyr
XM_011523902.3:c.173_174insCTA	XP_011522204.1:p.Asn58_Glu59insTyr
XM_011523903.2:c.173_174insCTA	XP_011522205.1:p.Asn58_Glu59insTyr
XM_017024701.1:c.119_120insCTA	XP_016880190.1:p.Asn40_Glu41insTyr
XM_017024702.2:c.-77_-76insCTA	XP_016880191.1:n.-77_-76insCTA
NM_000430.4:c.119_120insCTA MANE Select	NP_000421.1:p.Asn40_Glu41insTyr