Canonical Allele Identifier: CA2640084026
Gene: SEPTIN9 HGNC NCBI

Linked Data

gnomAD v4: 17-77482410-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.77482410_77482411insG , CM000679.2:g.77482410_77482411insG GRCh38
NC_000017.10:g.75478492_75478493insG , CM000679.1:g.75478492_75478493insG GRCh37
NC_000017.9:g.72990087_72990088insG NCBI36
NG_011683.1:g.206001_206002insG
NG_011683.2:g.206001_206002insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000329047.13:c.859+75_859+76insG MANE Plus Clinical ENSP00000329161.8:n.859+75_859+76insG
ENST00000427177.6:c.913+75_913+76insG MANE Select ENSP00000391249.1:n.913+75_913+76insG
ENST00000588690.6:c.421+75_421+76insG ENSP00000468668.1:n.421+75_421+76insG
ENST00000589250.6:n.217+75_217+76insG
ENST00000590294.6:n.962+75_962+76insG
ENST00000592481.6:c.160+75_160+76insG ENSP00000502589.1:n.160+75_160+76insG
ENST00000329047.12:c.859+75_859+76insG ENSP00000329161.8:n.859+75_859+76insG
ENST00000423034.6:c.892+75_892+76insG ENSP00000405877.1:n.892+75_892+76insG
ENST00000427177.5:c.913+75_913+76insG ENSP00000391249.1:n.913+75_913+76insG
ENST00000427180.5:c.577+75_577+76insG ENSP00000415624.1:n.577+75_577+76insG
ENST00000427674.6:c.421+75_421+76insG ENSP00000403194.1:n.421+75_421+76insG
ENST00000431235.6:c.421+75_421+76insG ENSP00000406987.2:n.421+75_421+76insG
ENST00000449803.6:c.421+75_421+76insG ENSP00000400181.2:n.421+75_421+76insG
ENST00000541152.6:c.160+75_160+76insG ENSP00000438089.2:n.160+75_160+76insG
ENST00000585638.1:c.160+75_160+76insG ENSP00000466115.1:n.160+75_160+76insG
ENST00000585929.5:c.160+75_160+76insG ENSP00000467780.1:n.160+75_160+76insG
ENST00000585930.5:c.241+75_241+76insG ENSP00000468120.1:n.241+75_241+76insG
ENST00000586128.5:c.160+75_160+76insG ENSP00000467792.1:n.160+75_160+76insG
ENST00000586433.5:c.160+75_160+76insG ENSP00000468110.1:n.160+75_160+76insG
ENST00000586521.5:c.160+75_160+76insG ENSP00000466170.1:n.160+75_160+76insG
ENST00000588575.1:c.196-5072_196-5071insG ENSP00000468090.1:n.196-5072_196-5071insG
ENST00000588690.5:c.421+75_421+76insG ENSP00000468668.1:n.421+75_421+76insG
ENST00000588958.6:c.160+75_160+76insG ENSP00000464832.1:n.160+75_160+76insG
ENST00000589920.5:c.160+75_160+76insG ENSP00000466532.1:n.160+75_160+76insG
ENST00000590059.5:c.364+75_364+76insG ENSP00000466164.1:n.364+75_364+76insG
ENST00000590294.5:c.859+75_859+76insG ENSP00000465464.1:n.859+75_859+76insG
ENST00000590917.5:c.160+75_160+76insG ENSP00000467619.1:n.160+75_160+76insG
ENST00000590938.5:c.160+75_160+76insG ENSP00000466201.1:n.160+75_160+76insG
ENST00000591020.5:c.160+75_160+76insG ENSP00000467908.1:n.160+75_160+76insG
ENST00000591088.5:c.160+75_160+76insG ENSP00000466247.1:n.160+75_160+76insG
ENST00000591198.5:c.856+75_856+76insG ENSP00000468406.1:n.856+75_856+76insG
ENST00000591472.6:c.160+75_160+76insG ENSP00000468410.2:n.160+75_160+76insG
ENST00000591704.5:c.160+75_160+76insG ENSP00000465415.1:n.160+75_160+76insG
ENST00000592420.1:c.415_416insG ENSP00000467051.1:p.Leu139CysfsTer15
ENST00000592481.5:n.477+75_477+76insG
ENST00000592951.5:c.160+75_160+76insG ENSP00000466648.1:n.160+75_160+76insG
ENST00000593189.6:c.160+75_160+76insG ENSP00000465904.1:n.160+75_160+76insG
NM_001113491.1:c.913+75_913+76insG NP_001106963.1:n.913+75_913+76insG
NM_001113492.1:c.421+75_421+76insG NP_001106964.1:n.421+75_421+76insG
NM_001113493.1:c.892+75_892+76insG NP_001106965.1:n.892+75_892+76insG
NM_001113494.1:c.421+75_421+76insG NP_001106966.1:n.421+75_421+76insG
NM_001113495.1:c.577+75_577+76insG NP_001106967.1:n.577+75_577+76insG
NM_001113496.1:c.160+75_160+76insG NP_001106968.1:n.160+75_160+76insG
NM_001293695.1:c.856+75_856+76insG NP_001280624.1:n.856+75_856+76insG
NM_001293696.1:c.241+75_241+76insG NP_001280625.1:n.241+75_241+76insG
NM_001293697.1:c.160+75_160+76insG NP_001280626.1:n.160+75_160+76insG
NM_001293698.1:c.160+75_160+76insG NP_001280627.1:n.160+75_160+76insG
NM_006640.4:c.859+75_859+76insG NP_006631.2:n.859+75_859+76insG
XM_005256962.1:c.160+75_160+76insG XP_005257019.1:n.160+75_160+76insG
XM_006721643.2:c.421+75_421+76insG XP_006721706.1:n.421+75_421+76insG
XM_006721644.1:c.160+75_160+76insG XP_006721707.1:n.160+75_160+76insG
XM_011524204.1:c.1006+75_1006+76insG XP_011522506.1:n.1006+75_1006+76insG
XM_011524205.1:c.1003+75_1003+76insG XP_011522507.1:n.1003+75_1003+76insG
XM_011524206.1:c.868+75_868+76insG XP_011522508.1:n.868+75_868+76insG
XM_011524207.1:c.421+75_421+76insG XP_011522509.1:n.421+75_421+76insG
XM_011524208.1:c.160+75_160+76insG XP_011522510.1:n.160+75_160+76insG
XM_011524209.1:c.160+75_160+76insG XP_011522511.1:n.160+75_160+76insG
NM_001113491.2:c.913+75_913+76insG MANE Select NP_001106963.1:n.913+75_913+76insG
NM_001113493.2:c.892+75_892+76insG NP_001106965.1:n.892+75_892+76insG
NM_001113496.2:c.160+75_160+76insG NP_001106968.1:n.160+75_160+76insG
NM_001293695.2:c.856+75_856+76insG NP_001280624.1:n.856+75_856+76insG
NM_001293696.2:c.241+75_241+76insG NP_001280625.1:n.241+75_241+76insG
NM_001293697.2:c.160+75_160+76insG NP_001280626.1:n.160+75_160+76insG
NM_001293698.2:c.160+75_160+76insG NP_001280627.1:n.160+75_160+76insG
NM_001113492.2:c.421+75_421+76insG NP_001106964.1:n.421+75_421+76insG
NM_001113495.2:c.160+75_160+76insG NP_001106967.2:n.160+75_160+76insG
NM_006640.5:c.859+75_859+76insG MANE Plus Clinical NP_006631.2:n.859+75_859+76insG
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