Canonical Allele Identifier: CA277423
Gene: PAFAH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.2680211dup , CM000679.2:g.2680211dup GRCh38
NC_000017.10:g.2583505dup , CM000679.1:g.2583505dup GRCh37
NC_000017.9:g.2530255dup NCBI36
NG_009799.1:g.91583dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000397195.10:c.1050dup MANE Select ENSP00000380378.4:p.Lys351GlufsTer8
ENST00000571495.2:n.2135dup
ENST00000610190.2:n.602dup
ENST00000674608.1:c.1104dup ENSP00000501976.1:p.Lys369GlufsTer8
ENST00000674717.1:c.855dup ENSP00000501931.1:p.Lys286GlufsTer8
ENST00000675084.1:n.304dup
ENST00000675202.1:c.1050dup ENSP00000502843.1:p.Lys351GlufsTer8
ENST00000675331.1:c.1050dup ENSP00000502031.1:p.Lys351GlufsTer8
ENST00000675385.1:n.664dup
ENST00000675390.1:c.1050dup ENSP00000501969.1:p.Lys351GlufsTer8
ENST00000675574.1:n.4105dup
ENST00000675621.1:c.*86-1518dup ENSP00000502117.1:n.*86-1518dup
ENST00000675764.1:c.*1004dup ENSP00000502242.1:n.*1004dup
ENST00000676077.1:c.*368dup ENSP00000502507.1:n.*368dup
ENST00000676098.1:c.1050dup ENSP00000502735.1:p.Lys351GlufsTer8
ENST00000676188.1:c.1050dup ENSP00000502577.1:p.Lys351GlufsTer8
ENST00000676353.1:c.855dup ENSP00000502737.1:p.Lys286GlufsTer8
ENST00000397193.7:n.858dup
ENST00000397195.9:c.1050dup ENSP00000380378.4:p.Lys351GlufsTer8
ENST00000571495.1:n.774dup
ENST00000572915.6:n.677-3377dup
ENST00000574468.1:c.444dup ENSP00000460591.1:p.Lys149GlufsTer8
ENST00000574816.5:n.371dup
ENST00000610190.1:n.525dup
NM_000430.3:c.1050dup NP_000421.1:p.Lys351GlufsTer8
XM_011523901.1:c.1104dup XP_011522203.1:p.Lys369GlufsTer8
XM_011523902.1:c.1104dup XP_011522204.1:p.Lys369GlufsTer8
XM_011523903.1:c.1104dup XP_011522205.1:p.Lys369GlufsTer8
XM_011523901.2:c.1104dup XP_011522203.1:p.Lys369GlufsTer8
XM_011523902.3:c.1104dup XP_011522204.1:p.Lys369GlufsTer8
XM_011523903.2:c.1104dup XP_011522205.1:p.Lys369GlufsTer8
XM_017024701.1:c.1050dup XP_016880190.1:p.Lys351GlufsTer8
XM_017024702.2:c.855dup XP_016880191.1:p.Lys286GlufsTer8
NM_000430.4:c.1050dup MANE Select NP_000421.1:p.Lys351GlufsTer8