Canonical Allele Identifier: CA2635320328

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2666092-T-TTATGGAATTAGAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2666092_2666093insTATGGAATTAGAATC , CM000679.2:g.2666092_2666093insTATGGAATTAGAATC	GRCh38
NC_000017.10:g.2569386_2569387insTATGGAATTAGAATC , CM000679.1:g.2569386_2569387insTATGGAATTAGAATC	GRCh37
NC_000017.9:g.2516136_2516137insTATGGAATTAGAATC	NCBI36
NG_009799.1:g.77464_77465insTATGGAATTAGAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.192+2_192+3insTATGGAATTAGAATC MANE Select	ENSP00000380378.4:n.192+2_192+3insTATGGAATTAGAATC
ENST00000674608.1:c.246+2_246+3insTATGGAATTAGAATC	ENSP00000501976.1:n.246+2_246+3insTATGGAATTAGAATC
ENST00000674717.1:c.-3-900_-3-899insTATGGAATTAGAATC	ENSP00000501931.1:n.-3-900_-3-899insTATGGAATTAGAATC
ENST00000675202.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000502843.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000675331.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000502031.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000675390.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000501969.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000675430.1:n.419+2_419+3insTATGGAATTAGAATC
ENST00000675621.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000502117.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000675764.1:c.*146+2_*146+3insTATGGAATTAGAATC	ENSP00000502242.1:n.*146+2_*146+3insTATGGAATTAGAATC
ENST00000676077.1:c.-4+2_-4+3insTATGGAATTAGAATC	ENSP00000502507.1:n.-4+2_-4+3insTATGGAATTAGAATC
ENST00000676098.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000502735.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000676188.1:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000502577.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000676201.1:n.346+2_346+3insTATGGAATTAGAATC
ENST00000676353.1:c.-4+2_-4+3insTATGGAATTAGAATC	ENSP00000502737.1:n.-4+2_-4+3insTATGGAATTAGAATC
ENST00000676456.1:n.297+2_297+3insTATGGAATTAGAATC
ENST00000397195.9:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000380378.4:n.192+2_192+3insTATGGAATTAGAATC
ENST00000570400.1:c.*62+2_*62+3insTATGGAATTAGAATC	ENSP00000460258.1:n.*62+2_*62+3insTATGGAATTAGAATC
ENST00000572915.6:n.273-900_273-899insTATGGAATTAGAATC
ENST00000574816.5:n.31-10222_31-10221insTATGGAATTAGAATC
ENST00000576586.5:c.192+2_192+3insTATGGAATTAGAATC	ENSP00000461087.1:n.192+2_192+3insTATGGAATTAGAATC
ENST00000609078.1:n.151+2_151+3insTATGGAATTAGAATC
NM_000430.3:c.192+2_192+3insTATGGAATTAGAATC	NP_000421.1:n.192+2_192+3insTATGGAATTAGAATC
XM_011523901.1:c.246+2_246+3insTATGGAATTAGAATC	XP_011522203.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523902.1:c.246+2_246+3insTATGGAATTAGAATC	XP_011522204.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523903.1:c.246+2_246+3insTATGGAATTAGAATC	XP_011522205.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523904.1:c.246+2_246+3insTATGGAATTAGAATC	XP_011522206.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523901.2:c.246+2_246+3insTATGGAATTAGAATC	XP_011522203.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523902.3:c.246+2_246+3insTATGGAATTAGAATC	XP_011522204.1:n.246+2_246+3insTATGGAATTAGAATC
XM_011523903.2:c.246+2_246+3insTATGGAATTAGAATC	XP_011522205.1:n.246+2_246+3insTATGGAATTAGAATC
XM_017024701.1:c.192+2_192+3insTATGGAATTAGAATC	XP_016880190.1:n.192+2_192+3insTATGGAATTAGAATC
XM_017024702.2:c.-4+2_-4+3insTATGGAATTAGAATC	XP_016880191.1:n.-4+2_-4+3insTATGGAATTAGAATC
NM_000430.4:c.192+2_192+3insTATGGAATTAGAATC MANE Select	NP_000421.1:n.192+2_192+3insTATGGAATTAGAATC