Canonical Allele Identifier: CA645372602

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 436143
• ClinVar RCV Id: RCV000501176
• dbSNP Id: rs1555526239

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2665364_2665365delinsAG , CM000679.2:g.2665364_2665365delinsAG	GRCh38
NC_000017.10:g.2568658_2568659delinsAG , CM000679.1:g.2568658_2568659delinsAG	GRCh37
NC_000017.9:g.2515408_2515409delinsAG	NCBI36
NG_009799.1:g.76736_76737delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.33-8_33-7delinsAG MANE Select	ENSP00000380378.4:n.33-8_33-7delinsAG
ENST00000674608.1:c.87-8_87-7delinsAG	ENSP00000501976.1:n.87-8_87-7delinsAG
ENST00000674717.1:c.-3-1628_-3-1627delinsAG	ENSP00000501931.1:n.-3-1628_-3-1627delinsAG
ENST00000675202.1:c.33-8_33-7delinsAG	ENSP00000502843.1:n.33-8_33-7delinsAG
ENST00000675331.1:c.33-8_33-7delinsAG	ENSP00000502031.1:n.33-8_33-7delinsAG
ENST00000675390.1:c.33-8_33-7delinsAG	ENSP00000501969.1:n.33-8_33-7delinsAG
ENST00000675430.1:n.260-8_260-7delinsAG
ENST00000675621.1:c.33-8_33-7delinsAG	ENSP00000502117.1:n.33-8_33-7delinsAG
ENST00000675764.1:c.131-8_131-7delinsAG	ENSP00000502242.1:n.131-8_131-7delinsAG
ENST00000676077.1:c.-163-8_-163-7delinsAG	ENSP00000502507.1:n.-163-8_-163-7delinsAG
ENST00000676098.1:c.33-8_33-7delinsAG	ENSP00000502735.1:n.33-8_33-7delinsAG
ENST00000676188.1:c.33-8_33-7delinsAG	ENSP00000502577.1:n.33-8_33-7delinsAG
ENST00000676201.1:n.272-652_272-651delinsAG
ENST00000676353.1:c.-78-652_-78-651delinsAG	ENSP00000502737.1:n.-78-652_-78-651delinsAG
ENST00000676456.1:n.223-652_223-651delinsAG
ENST00000397195.9:c.33-8_33-7delinsAG	ENSP00000380378.4:n.33-8_33-7delinsAG
ENST00000570400.1:c.33-652_33-651delinsAG	ENSP00000460258.1:n.33-652_33-651delinsAG
ENST00000572915.6:n.273-1628_273-1627delinsAG
ENST00000574816.5:n.31-10950_31-10949delinsAG
ENST00000575477.5:n.620-652_620-651delinsAG
ENST00000576586.5:c.33-8_33-7delinsAG	ENSP00000461087.1:n.33-8_33-7delinsAG
NM_000430.3:c.33-8_33-7delinsAG	NP_000421.1:n.33-8_33-7delinsAG
XM_011523901.1:c.87-8_87-7delinsAG	XP_011522203.1:n.87-8_87-7delinsAG
XM_011523902.1:c.87-8_87-7delinsAG	XP_011522204.1:n.87-8_87-7delinsAG
XM_011523903.1:c.87-8_87-7delinsAG	XP_011522205.1:n.87-8_87-7delinsAG
XM_011523904.1:c.87-8_87-7delinsAG	XP_011522206.1:n.87-8_87-7delinsAG
XM_011523901.2:c.87-8_87-7delinsAG	XP_011522203.1:n.87-8_87-7delinsAG
XM_011523902.3:c.87-8_87-7delinsAG	XP_011522204.1:n.87-8_87-7delinsAG
XM_011523903.2:c.87-8_87-7delinsAG	XP_011522205.1:n.87-8_87-7delinsAG
XM_017024701.1:c.33-8_33-7delinsAG	XP_016880190.1:n.33-8_33-7delinsAG
XM_017024702.2:c.-78-652_-78-651delinsAG	XP_016880191.1:n.-78-652_-78-651delinsAG
NM_000430.4:c.33-8_33-7delinsAG MANE Select	NP_000421.1:n.33-8_33-7delinsAG