Canonical Allele Identifier: CA272427

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 159534
• ClinVar RCV Id: RCV000147050
• dbSNP Id: rs587784277
• MyVariant Identifiers: chr17:g.2576038del (hg19) ; chr17:g.2672744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2672744del , CM000679.2:g.2672744del	GRCh38
NC_000017.10:g.2576038del , CM000679.1:g.2576038del	GRCh37
NC_000017.9:g.2522788del	NCBI36
NG_009799.1:g.84116del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.658del MANE Select	ENSP00000380378.4:p.Glu220LysfsTer8
ENST00000571495.2:n.441del
ENST00000674608.1:c.712del	ENSP00000501976.1:p.Glu238LysfsTer8
ENST00000674717.1:c.463del	ENSP00000501931.1:p.Glu155LysfsTer8
ENST00000675202.1:c.658del	ENSP00000502843.1:p.Glu220LysfsTer8
ENST00000675331.1:c.658del	ENSP00000502031.1:p.Glu220LysfsTer8
ENST00000675390.1:c.658del	ENSP00000501969.1:p.Glu220LysfsTer8
ENST00000675574.1:n.428del
ENST00000675621.1:c.658del	ENSP00000502117.1:p.Glu220LysfsTer8
ENST00000675764.1:c.*612del	ENSP00000502242.1:n.*612del
ENST00000676077.1:c.374-1316del	ENSP00000502507.1:n.374-1316del
ENST00000676098.1:c.658del	ENSP00000502735.1:p.Glu220LysfsTer8
ENST00000676188.1:c.658del	ENSP00000502577.1:p.Glu220LysfsTer8
ENST00000676353.1:c.463del	ENSP00000502737.1:p.Glu155LysfsTer8
ENST00000397193.7:n.466del
ENST00000397195.9:c.658del	ENSP00000380378.4:p.Glu220LysfsTer8
ENST00000572915.6:n.626del
ENST00000574468.1:c.154del	ENSP00000460591.1:p.Glu52LysfsTer8
ENST00000574816.5:n.31-3570del
NM_000430.3:c.658del	NP_000421.1:p.Glu220LysfsTer8
XM_011523901.1:c.712del	XP_011522203.1:p.Glu238LysfsTer8
XM_011523902.1:c.712del	XP_011522204.1:p.Glu238LysfsTer8
XM_011523903.1:c.712del	XP_011522205.1:p.Glu238LysfsTer8
XM_011523904.1:c.623-1316del	XP_011522206.1:n.623-1316del
XM_011523901.2:c.712del	XP_011522203.1:p.Glu238LysfsTer8
XM_011523902.3:c.712del	XP_011522204.1:p.Glu238LysfsTer8
XM_011523903.2:c.712del	XP_011522205.1:p.Glu238LysfsTer8
XM_017024701.1:c.658del	XP_016880190.1:p.Glu220LysfsTer8
XM_017024702.2:c.463del	XP_016880191.1:p.Glu155LysfsTer8
NM_000430.4:c.658del MANE Select	NP_000421.1:p.Glu220LysfsTer8