Canonical Allele Identifier: CA624510415

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs1281915914
• gnomAD v2: 17-2579774-TTAA-T
• gnomAD v4: 17-2676480-TTAA-T
• MyVariant Identifiers: chr17:g.2579775_2579777del (hg19) ; chr17:g.2676481_2676483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676482_2676484del , CM000679.2:g.2676482_2676484del	GRCh38
NC_000017.10:g.2579776_2579778del , CM000679.1:g.2579776_2579778del	GRCh37
NC_000017.9:g.2526526_2526528del	NCBI36
NG_009799.1:g.87854_87856del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.901-23_901-21del MANE Select	ENSP00000380378.4:n.901-23_901-21del
ENST00000571495.2:n.1986-23_1986-21del
ENST00000674608.1:c.955-23_955-21del	ENSP00000501976.1:n.955-23_955-21del
ENST00000674717.1:c.706-23_706-21del	ENSP00000501931.1:n.706-23_706-21del
ENST00000675084.1:n.132_134del
ENST00000675202.1:c.901-23_901-21del	ENSP00000502843.1:n.901-23_901-21del
ENST00000675331.1:c.901-23_901-21del	ENSP00000502031.1:n.901-23_901-21del
ENST00000675385.1:n.492_494del
ENST00000675390.1:c.901-23_901-21del	ENSP00000501969.1:n.901-23_901-21del
ENST00000675574.1:n.3933_3935del
ENST00000675621.1:c.901-23_901-21del	ENSP00000502117.1:n.901-23_901-21del
ENST00000675764.1:c.*855-23_*855-21del	ENSP00000502242.1:n.*855-23_*855-21del
ENST00000676077.1:c.*219-23_*219-21del	ENSP00000502507.1:n.*219-23_*219-21del
ENST00000676098.1:c.901-23_901-21del	ENSP00000502735.1:n.901-23_901-21del
ENST00000676188.1:c.901-23_901-21del	ENSP00000502577.1:n.901-23_901-21del
ENST00000676353.1:c.706-23_706-21del	ENSP00000502737.1:n.706-23_706-21del
ENST00000397193.7:n.709-23_709-21del
ENST00000397195.9:c.901-23_901-21del	ENSP00000380378.4:n.901-23_901-21del
ENST00000571495.1:n.625-23_625-21del
ENST00000572915.6:n.676+2386_676+2388del
ENST00000574468.1:c.396+2194_396+2196del	ENSP00000460591.1:n.396+2194_396+2196del
ENST00000574816.5:n.199_201del
NM_000430.3:c.901-23_901-21del	NP_000421.1:n.901-23_901-21del
XM_011523901.1:c.955-23_955-21del	XP_011522203.1:n.955-23_955-21del
XM_011523902.1:c.955-23_955-21del	XP_011522204.1:n.955-23_955-21del
XM_011523903.1:c.955-23_955-21del	XP_011522205.1:n.955-23_955-21del
XM_011523901.2:c.955-23_955-21del	XP_011522203.1:n.955-23_955-21del
XM_011523902.3:c.955-23_955-21del	XP_011522204.1:n.955-23_955-21del
XM_011523903.2:c.955-23_955-21del	XP_011522205.1:n.955-23_955-21del
XM_017024701.1:c.901-23_901-21del	XP_016880190.1:n.901-23_901-21del
XM_017024702.2:c.706-23_706-21del	XP_016880191.1:n.706-23_706-21del
NM_000430.4:c.901-23_901-21del MANE Select	NP_000421.1:n.901-23_901-21del