Canonical Allele Identifier: CA2559985866

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319886-TGGAGGAGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319888_77319897del , CM000679.2:g.77319888_77319897del	GRCh38
NC_000017.10:g.75315970_75315979del , CM000679.1:g.75315970_75315979del	GRCh37
NC_000017.9:g.72827565_72827574del	NCBI36
NG_011683.1:g.43479_43488del
NG_011683.2:g.43479_43488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-439_-430del MANE Plus Clinical	ENSP00000329161.8:n.-439_-430del
ENST00000427177.6:c.76+12691_76+12700del MANE Select	ENSP00000391249.1:n.76+12691_76+12700del
ENST00000329047.12:c.-439_-430del	ENSP00000329161.8:n.-439_-430del
ENST00000427177.5:c.76+12691_76+12700del	ENSP00000391249.1:n.76+12691_76+12700del
ENST00000431235.6:c.-417+12691_-417+12700del	ENSP00000406987.2:n.-417+12691_-417+12700del
ENST00000449803.6:c.-417+12691_-417+12700del	ENSP00000400181.2:n.-417+12691_-417+12700del
ENST00000587237.1:n.406+12691_406+12700del
ENST00000588575.1:c.36+85_36+94del	ENSP00000468090.1:n.36+85_36+94del
ENST00000589070.1:c.31+39082_31+39091del	ENSP00000465332.1:n.31+39082_31+39091del
ENST00000590294.5:c.-439_-430del	ENSP00000465464.1:n.-439_-430del
ENST00000590576.5:c.*76+12691_*76+12700del	ENSP00000465600.1:n.*76+12691_*76+12700del
ENST00000590595.1:c.36+85_36+94del	ENSP00000465026.1:n.36+85_36+94del
ENST00000591198.5:c.19+38334_19+38343del	ENSP00000468406.1:n.19+38334_19+38343del
ENST00000591833.5:c.*71+12691_*71+12700del	ENSP00000466684.1:n.*71+12691_*71+12700del
NM_001113491.1:c.76+12691_76+12700del	NP_001106963.1:n.76+12691_76+12700del
NM_001113492.1:c.-417+12691_-417+12700del	NP_001106964.1:n.-417+12691_-417+12700del
NM_001293695.1:c.19+38334_19+38343del	NP_001280624.1:n.19+38334_19+38343del
NM_006640.4:c.-439_-430del	NP_006631.2:n.-439_-430del
XM_006721643.2:c.-417+12691_-417+12700del	XP_006721706.1:n.-417+12691_-417+12700del
XM_011524204.1:c.169+12691_169+12700del	XP_011522506.1:n.169+12691_169+12700del
XM_011524205.1:c.166+12691_166+12700del	XP_011522507.1:n.166+12691_166+12700del
NM_001113491.2:c.76+12691_76+12700del MANE Select	NP_001106963.1:n.76+12691_76+12700del
NM_001293695.2:c.19+38334_19+38343del	NP_001280624.1:n.19+38334_19+38343del
NM_001113492.2:c.-417+12691_-417+12700del	NP_001106964.1:n.-417+12691_-417+12700del
NM_006640.5:c.-439_-430del MANE Plus Clinical	NP_006631.2:n.-439_-430del