Canonical Allele Identifier: CA2243491391

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 996620
• ClinVar RCV Id: RCV001291187
• dbSNP Id: rs2069227227

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674109del , CM000679.2:g.2674109del	GRCh38
NC_000017.10:g.2577403del , CM000679.1:g.2577403del	GRCh37
NC_000017.9:g.2524153del	NCBI36
NG_009799.1:g.85481del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.721del MANE Select	ENSP00000380378.4:p.Arg241GlyfsTer8
ENST00000571495.2:n.1806del
ENST00000674608.1:c.775del	ENSP00000501976.1:p.Arg259GlyfsTer8
ENST00000674717.1:c.526del	ENSP00000501931.1:p.Arg176GlyfsTer8
ENST00000675202.1:c.721del	ENSP00000502843.1:p.Arg241GlyfsTer8
ENST00000675331.1:c.721del	ENSP00000502031.1:p.Arg241GlyfsTer8
ENST00000675390.1:c.721del	ENSP00000501969.1:p.Arg241GlyfsTer8
ENST00000675574.1:n.1793del
ENST00000675621.1:c.721del	ENSP00000502117.1:p.Arg241GlyfsTer8
ENST00000675764.1:c.*675del	ENSP00000502242.1:n.*675del
ENST00000676077.1:c.*39del	ENSP00000502507.1:n.*39del
ENST00000676098.1:c.721del	ENSP00000502735.1:p.Arg241GlyfsTer8
ENST00000676188.1:c.721del	ENSP00000502577.1:p.Arg241GlyfsTer8
ENST00000676353.1:c.526del	ENSP00000502737.1:p.Arg176GlyfsTer8
ENST00000397193.7:n.529del
ENST00000397195.9:c.721del	ENSP00000380378.4:p.Arg241GlyfsTer8
ENST00000571495.1:n.445del
ENST00000572915.6:n.676+13del
ENST00000574468.1:c.217del	ENSP00000460591.1:p.Arg73GlyfsTer8
ENST00000574816.5:n.31-2205del
NM_000430.3:c.721del	NP_000421.1:p.Arg241GlyfsTer8
XM_011523901.1:c.775del	XP_011522203.1:p.Arg259GlyfsTer8
XM_011523902.1:c.775del	XP_011522204.1:p.Arg259GlyfsTer8
XM_011523903.1:c.775del	XP_011522205.1:p.Arg259GlyfsTer8
XM_011523904.1:c.*39del	XP_011522206.1:n.*39del
XM_011523901.2:c.775del	XP_011522203.1:p.Arg259GlyfsTer8
XM_011523902.3:c.775del	XP_011522204.1:p.Arg259GlyfsTer8
XM_011523903.2:c.775del	XP_011522205.1:p.Arg259GlyfsTer8
XM_017024701.1:c.721del	XP_016880190.1:p.Arg241GlyfsTer8
XM_017024702.2:c.526del	XP_016880191.1:p.Arg176GlyfsTer8
NM_000430.4:c.721del MANE Select	NP_000421.1:p.Arg241GlyfsTer8