Canonical Allele Identifier: CA2842579752
Gene: SEPTIN9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.77402385dup , CM000679.2:g.77402385dup GRCh38
NC_000017.10:g.75398467dup , CM000679.1:g.75398467dup GRCh37
NC_000017.9:g.72910062dup NCBI36
NG_011683.1:g.125976dup
NG_011683.2:g.125976dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329047.13:c.349dup MANE Plus Clinical ENSP00000329161.8:p.Ala117GlyfsTer?
ENST00000427177.6:c.403dup MANE Select ENSP00000391249.1:p.Ala135GlyfsTer?
ENST00000588690.6:c.-90dup ENSP00000468668.1:n.-90dup
ENST00000590294.6:n.452dup
ENST00000329047.12:c.349dup ENSP00000329161.8:p.Ala117GlyfsTer?
ENST00000423034.6:c.382dup ENSP00000405877.1:p.Ala128GlyfsTer?
ENST00000427177.5:c.403dup ENSP00000391249.1:p.Ala135GlyfsTer?
ENST00000427674.6:c.-90dup ENSP00000403194.1:n.-90dup
ENST00000431235.6:c.-90dup ENSP00000406987.2:n.-90dup
ENST00000449803.6:c.-90dup ENSP00000400181.2:n.-90dup
ENST00000586812.1:n.462dup
ENST00000587514.1:n.532dup
ENST00000588575.1:c.85dup ENSP00000468090.1:p.Ala29GlyfsTer?
ENST00000588690.5:c.-90dup ENSP00000468668.1:n.-90dup
ENST00000589070.1:c.358dup ENSP00000465332.1:p.Ala120GlyfsTer?
ENST00000589140.1:c.358dup ENSP00000466997.1:p.Ala120GlyfsTer?
ENST00000590059.5:c.25-171dup ENSP00000466164.1:n.25-171dup
ENST00000590294.5:c.349dup ENSP00000465464.1:p.Ala117GlyfsTer?
ENST00000590576.5:c.*403dup ENSP00000465600.1:n.*403dup
ENST00000590586.1:n.508dup
ENST00000590595.1:c.85dup ENSP00000465026.1:p.Ala29GlyfsTer?
ENST00000590825.1:c.-90dup ENSP00000468244.1:n.-90dup
ENST00000591198.5:c.346dup ENSP00000468406.1:p.Ala116GlyfsTer?
ENST00000591934.1:c.424dup ENSP00000468504.1:p.Ala142GlyfsTer?
ENST00000592098.1:n.433dup
ENST00000592420.1:c.-171dup ENSP00000467051.1:n.-171dup
NM_001113491.1:c.403dup NP_001106963.1:p.Ala135GlyfsTer?
NM_001113492.1:c.-90dup NP_001106964.1:n.-90dup
NM_001113493.1:c.382dup NP_001106965.1:p.Ala128GlyfsTer?
NM_001113494.1:c.-90dup NP_001106966.1:n.-90dup
NM_001293695.1:c.346dup NP_001280624.1:p.Ala116GlyfsTer?
NM_006640.4:c.349dup NP_006631.2:p.Ala117GlyfsTer?
XM_006721643.2:c.-90dup XP_006721706.1:n.-90dup
XM_011524204.1:c.496dup XP_011522506.1:p.Ala166GlyfsTer?
XM_011524205.1:c.493dup XP_011522507.1:p.Ala165GlyfsTer?
XM_011524206.1:c.358dup XP_011522508.1:p.Ala120GlyfsTer?
XM_011524207.1:c.-90dup XP_011522509.1:n.-90dup
NM_001113491.2:c.403dup MANE Select NP_001106963.1:p.Ala135GlyfsTer?
NM_001113493.2:c.382dup NP_001106965.1:p.Ala128GlyfsTer?
NM_001293695.2:c.346dup NP_001280624.1:p.Ala116GlyfsTer?
NM_001113492.2:c.-90dup NP_001106964.1:n.-90dup
NM_006640.5:c.349dup MANE Plus Clinical NP_006631.2:p.Ala117GlyfsTer?