Canonical Allele Identifier: CA2635351333

Gene: PAFAH1B1

Linked Data

• gnomAD v4: 17-2676215-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676219_2676220del , CM000679.2:g.2676219_2676220del	GRCh38
NC_000017.10:g.2579513_2579514del , CM000679.1:g.2579513_2579514del	GRCh37
NC_000017.9:g.2526263_2526264del	NCBI36
NG_009799.1:g.87591_87592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.901-286_901-285del MANE Select	ENSP00000380378.4:n.901-286_901-285del
ENST00000571495.2:n.1986-286_1986-285del
ENST00000674608.1:c.955-286_955-285del	ENSP00000501976.1:n.955-286_955-285del
ENST00000674717.1:c.706-286_706-285del	ENSP00000501931.1:n.706-286_706-285del
ENST00000675202.1:c.901-286_901-285del	ENSP00000502843.1:n.901-286_901-285del
ENST00000675331.1:c.901-286_901-285del	ENSP00000502031.1:n.901-286_901-285del
ENST00000675385.1:n.324-95_324-94del
ENST00000675390.1:c.901-286_901-285del	ENSP00000501969.1:n.901-286_901-285del
ENST00000675574.1:n.3670_3671del
ENST00000675621.1:c.901-286_901-285del	ENSP00000502117.1:n.901-286_901-285del
ENST00000675764.1:c.*855-286_*855-285del	ENSP00000502242.1:n.*855-286_*855-285del
ENST00000676077.1:c.*219-286_*219-285del	ENSP00000502507.1:n.*219-286_*219-285del
ENST00000676098.1:c.901-286_901-285del	ENSP00000502735.1:n.901-286_901-285del
ENST00000676188.1:c.901-286_901-285del	ENSP00000502577.1:n.901-286_901-285del
ENST00000676353.1:c.706-286_706-285del	ENSP00000502737.1:n.706-286_706-285del
ENST00000397193.7:n.709-286_709-285del
ENST00000397195.9:c.901-286_901-285del	ENSP00000380378.4:n.901-286_901-285del
ENST00000571495.1:n.625-286_625-285del
ENST00000572915.6:n.676+2123_676+2124del
ENST00000574468.1:c.396+1931_396+1932del	ENSP00000460591.1:n.396+1931_396+1932del
ENST00000574816.5:n.31-95_31-94del
NM_000430.3:c.901-286_901-285del	NP_000421.1:n.901-286_901-285del
XM_011523901.1:c.955-286_955-285del	XP_011522203.1:n.955-286_955-285del
XM_011523902.1:c.955-286_955-285del	XP_011522204.1:n.955-286_955-285del
XM_011523903.1:c.955-286_955-285del	XP_011522205.1:n.955-286_955-285del
XM_011523901.2:c.955-286_955-285del	XP_011522203.1:n.955-286_955-285del
XM_011523902.3:c.955-286_955-285del	XP_011522204.1:n.955-286_955-285del
XM_011523903.2:c.955-286_955-285del	XP_011522205.1:n.955-286_955-285del
XM_017024701.1:c.901-286_901-285del	XP_016880190.1:n.901-286_901-285del
XM_017024702.2:c.706-286_706-285del	XP_016880191.1:n.706-286_706-285del
NM_000430.4:c.901-286_901-285del MANE Select	NP_000421.1:n.901-286_901-285del