Canonical Allele Identifier: CA2635351431

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676314-GTTGCAGTGACCCAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676320_2676335del , CM000679.2:g.2676320_2676335del	GRCh38
NC_000017.10:g.2579614_2579629del , CM000679.1:g.2579614_2579629del	GRCh37
NC_000017.9:g.2526364_2526379del	NCBI36
NG_009799.1:g.87692_87707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-185_901-170del MANE Select	ENSP00000380378.4:n.901-185_901-170del
ENST00000571495.2:n.1986-185_1986-170del
ENST00000674608.1:c.955-185_955-170del	ENSP00000501976.1:n.955-185_955-170del
ENST00000674717.1:c.706-185_706-170del	ENSP00000501931.1:n.706-185_706-170del
ENST00000675202.1:c.901-185_901-170del	ENSP00000502843.1:n.901-185_901-170del
ENST00000675331.1:c.901-185_901-170del	ENSP00000502031.1:n.901-185_901-170del
ENST00000675385.1:n.330_345del
ENST00000675390.1:c.901-185_901-170del	ENSP00000501969.1:n.901-185_901-170del
ENST00000675574.1:n.3771_3786del
ENST00000675621.1:c.901-185_901-170del	ENSP00000502117.1:n.901-185_901-170del
ENST00000675764.1:c.*855-185_*855-170del	ENSP00000502242.1:n.*855-185_*855-170del
ENST00000676077.1:c.*219-185_*219-170del	ENSP00000502507.1:n.*219-185_*219-170del
ENST00000676098.1:c.901-185_901-170del	ENSP00000502735.1:n.901-185_901-170del
ENST00000676188.1:c.901-185_901-170del	ENSP00000502577.1:n.901-185_901-170del
ENST00000676353.1:c.706-185_706-170del	ENSP00000502737.1:n.706-185_706-170del
ENST00000397193.7:n.709-185_709-170del
ENST00000397195.9:c.901-185_901-170del	ENSP00000380378.4:n.901-185_901-170del
ENST00000571495.1:n.625-185_625-170del
ENST00000572915.6:n.676+2224_676+2239del
ENST00000574468.1:c.396+2032_396+2047del	ENSP00000460591.1:n.396+2032_396+2047del
ENST00000574816.5:n.37_52del
NM_000430.3:c.901-185_901-170del	NP_000421.1:n.901-185_901-170del
XM_011523901.1:c.955-185_955-170del	XP_011522203.1:n.955-185_955-170del
XM_011523902.1:c.955-185_955-170del	XP_011522204.1:n.955-185_955-170del
XM_011523903.1:c.955-185_955-170del	XP_011522205.1:n.955-185_955-170del
XM_011523901.2:c.955-185_955-170del	XP_011522203.1:n.955-185_955-170del
XM_011523902.3:c.955-185_955-170del	XP_011522204.1:n.955-185_955-170del
XM_011523903.2:c.955-185_955-170del	XP_011522205.1:n.955-185_955-170del
XM_017024701.1:c.901-185_901-170del	XP_016880190.1:n.901-185_901-170del
XM_017024702.2:c.706-185_706-170del	XP_016880191.1:n.706-185_706-170del
NM_000430.4:c.901-185_901-170del MANE Select	NP_000421.1:n.901-185_901-170del