Canonical Allele Identifier: CA286908889

Gene: PAFAH1B1

Linked Data

• dbSNP Id: rs34276555
• MyVariant Identifiers: chr17:g.2579835_2579836insA (hg19) ; chr17:g.2676541_2676542insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.2676541_2676542insA , CM000679.2:g.2676541_2676542insA	GRCh38
NC_000017.10:g.2579835_2579836insA , CM000679.1:g.2579835_2579836insA	GRCh37
NC_000017.9:g.2526585_2526586insA	NCBI36
NG_009799.1:g.87913_87914insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397195.10:c.937_938insA MANE Select	ENSP00000380378.4:p.Ser313TyrfsTer9
ENST00000571495.2:n.2022_2023insA
ENST00000674608.1:c.991_992insA	ENSP00000501976.1:p.Ser331TyrfsTer9
ENST00000674717.1:c.742_743insA	ENSP00000501931.1:p.Ser248TyrfsTer9
ENST00000675084.1:n.191_192insA
ENST00000675202.1:c.937_938insA	ENSP00000502843.1:p.Ser313TyrfsTer9
ENST00000675331.1:c.937_938insA	ENSP00000502031.1:p.Ser313TyrfsTer9
ENST00000675385.1:n.551_552insA
ENST00000675390.1:c.937_938insA	ENSP00000501969.1:p.Ser313TyrfsTer9
ENST00000675574.1:n.3992_3993insA
ENST00000675621.1:c.937_938insA	ENSP00000502117.1:p.Ser313TyrfsTer9
ENST00000675764.1:c.*891_*892insA	ENSP00000502242.1:n.*891_*892insA
ENST00000676077.1:c.*255_*256insA	ENSP00000502507.1:n.*255_*256insA
ENST00000676098.1:c.937_938insA	ENSP00000502735.1:p.Ser313TyrfsTer9
ENST00000676188.1:c.937_938insA	ENSP00000502577.1:p.Ser313TyrfsTer9
ENST00000676353.1:c.742_743insA	ENSP00000502737.1:p.Ser248TyrfsTer9
ENST00000397193.7:n.745_746insA
ENST00000397195.9:c.937_938insA	ENSP00000380378.4:p.Ser313TyrfsTer9
ENST00000571495.1:n.661_662insA
ENST00000572915.6:n.676+2445_676+2446insA
ENST00000574468.1:c.396+2253_396+2254insA	ENSP00000460591.1:n.396+2253_396+2254insA
ENST00000574816.5:n.258_259insA
NM_000430.3:c.937_938insA	NP_000421.1:p.Ser313TyrfsTer9
XM_011523901.1:c.991_992insA	XP_011522203.1:p.Ser331TyrfsTer9
XM_011523902.1:c.991_992insA	XP_011522204.1:p.Ser331TyrfsTer9
XM_011523903.1:c.991_992insA	XP_011522205.1:p.Ser331TyrfsTer9
XM_011523901.2:c.991_992insA	XP_011522203.1:p.Ser331TyrfsTer9
XM_011523902.3:c.991_992insA	XP_011522204.1:p.Ser331TyrfsTer9
XM_011523903.2:c.991_992insA	XP_011522205.1:p.Ser331TyrfsTer9
XM_017024701.1:c.937_938insA	XP_016880190.1:p.Ser313TyrfsTer9
XM_017024702.2:c.742_743insA	XP_016880191.1:p.Ser248TyrfsTer9
NM_000430.4:c.937_938insA MANE Select	NP_000421.1:p.Ser313TyrfsTer9