Canonical Allele Identifier: CA277341

Gene: PAFAH1B1

Linked Data

• ClinVar Variation Id: 211831
• ClinVar RCV Id: RCV000194563
• dbSNP Id: rs797045867
• MyVariant Identifiers: chr17:g.2577410_2577414dupATCAA (hg19) ; chr17:g.2674116_2674120dupATCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2674116_2674120dup , CM000679.2:g.2674116_2674120dup	GRCh38
NC_000017.10:g.2577410_2577414dup , CM000679.1:g.2577410_2577414dup	GRCh37
NC_000017.9:g.2524160_2524164dup	NCBI36
NG_009799.1:g.85488_85492dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000397195.10:c.728_732dup MANE Select	ENSP00000380378.4:p.Asp245IlefsTer6
ENST00000571495.2:n.1813_1817dup
ENST00000674608.1:c.782_786dup	ENSP00000501976.1:p.Asp263IlefsTer6
ENST00000674717.1:c.533_537dup	ENSP00000501931.1:p.Asp180IlefsTer6
ENST00000675202.1:c.728_732dup	ENSP00000502843.1:p.Asp245IlefsTer6
ENST00000675331.1:c.728_732dup	ENSP00000502031.1:p.Asp245IlefsTer6
ENST00000675390.1:c.728_732dup	ENSP00000501969.1:p.Asp245IlefsTer6
ENST00000675574.1:n.1800_1804dup
ENST00000675621.1:c.728_732dup	ENSP00000502117.1:p.Asp245IlefsTer6
ENST00000675764.1:c.*682_*686dup	ENSP00000502242.1:n.*682_*686dup
ENST00000676077.1:c.*46_*50dup	ENSP00000502507.1:n.*46_*50dup
ENST00000676098.1:c.728_732dup	ENSP00000502735.1:p.Asp245IlefsTer6
ENST00000676188.1:c.728_732dup	ENSP00000502577.1:p.Asp245IlefsTer6
ENST00000676353.1:c.533_537dup	ENSP00000502737.1:p.Asp180IlefsTer6
ENST00000397193.7:n.536_540dup
ENST00000397195.9:c.728_732dup	ENSP00000380378.4:p.Asp245IlefsTer6
ENST00000571495.1:n.452_456dup
ENST00000572915.6:n.676+20_676+24dup
ENST00000574468.1:c.224_228dup	ENSP00000460591.1:p.Asp77IlefsTer6
ENST00000574816.5:n.31-2198_31-2194dup
NM_000430.3:c.728_732dup	NP_000421.1:p.Asp245IlefsTer6
XM_011523901.1:c.782_786dup	XP_011522203.1:p.Asp263IlefsTer6
XM_011523902.1:c.782_786dup	XP_011522204.1:p.Asp263IlefsTer6
XM_011523903.1:c.782_786dup	XP_011522205.1:p.Asp263IlefsTer6
XM_011523904.1:c.*46_*50dup	XP_011522206.1:n.*46_*50dup
XM_011523901.2:c.782_786dup	XP_011522203.1:p.Asp263IlefsTer6
XM_011523902.3:c.782_786dup	XP_011522204.1:p.Asp263IlefsTer6
XM_011523903.2:c.782_786dup	XP_011522205.1:p.Asp263IlefsTer6
XM_017024701.1:c.728_732dup	XP_016880190.1:p.Asp245IlefsTer6
XM_017024702.2:c.533_537dup	XP_016880191.1:p.Asp180IlefsTer6
NM_000430.4:c.728_732dup MANE Select	NP_000421.1:p.Asp245IlefsTer6