Canonical Allele Identifier: CA2276422613

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319748_77319753delinsAGCATC , CM000679.2:g.77319748_77319753delinsAGCATC	GRCh38
NC_000017.10:g.75315830_75315835delinsAGCATC , CM000679.1:g.75315830_75315835delinsAGCATC	GRCh37
NC_000017.9:g.72827425_72827430delinsAGCATC	NCBI36
NG_011683.1:g.43339_43344delinsAGCATC
NG_011683.2:g.43339_43344delinsAGCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-579_-574delinsAGCATC MANE Plus Clinical	ENSP00000329161.8:n.-579_-574delinsAGCATC
ENST00000427177.6:c.76+12551_76+12556delinsAGCATC MANE Select	ENSP00000391249.1:n.76+12551_76+12556delinsAGCATC
ENST00000329047.12:c.-579_-574delinsAGCATC	ENSP00000329161.8:n.-579_-574delinsAGCATC
ENST00000427177.5:c.76+12551_76+12556delinsAGCATC	ENSP00000391249.1:n.76+12551_76+12556delinsAGCATC
ENST00000431235.6:c.-417+12551_-417+12556delinsAGCATC	ENSP00000406987.2:n.-417+12551_-417+12556delinsAGCATC
ENST00000449803.6:c.-417+12551_-417+12556delinsAGCATC	ENSP00000400181.2:n.-417+12551_-417+12556delinsAGCATC
ENST00000587237.1:n.406+12551_406+12556delinsAGCATC
ENST00000588575.1:c.-20_-15delinsAGCATC	ENSP00000468090.1:n.-20_-15delinsAGCATC
ENST00000589070.1:c.31+38942_31+38947delinsAGCATC	ENSP00000465332.1:n.31+38942_31+38947delinsAGCATC
ENST00000590294.5:c.-579_-574delinsAGCATC	ENSP00000465464.1:n.-579_-574delinsAGCATC
ENST00000590576.5:c.*76+12551_*76+12556delinsAGCATC	ENSP00000465600.1:n.*76+12551_*76+12556delinsAGCATC
ENST00000590595.1:c.-20_-15delinsAGCATC	ENSP00000465026.1:n.-20_-15delinsAGCATC
ENST00000591198.5:c.19+38194_19+38199delinsAGCATC	ENSP00000468406.1:n.19+38194_19+38199delinsAGCATC
ENST00000591833.5:c.*71+12551_*71+12556delinsAGCATC	ENSP00000466684.1:n.*71+12551_*71+12556delinsAGCATC
NM_001113491.1:c.76+12551_76+12556delinsAGCATC	NP_001106963.1:n.76+12551_76+12556delinsAGCATC
NM_001113492.1:c.-417+12551_-417+12556delinsAGCATC	NP_001106964.1:n.-417+12551_-417+12556delinsAGCATC
NM_001293695.1:c.19+38194_19+38199delinsAGCATC	NP_001280624.1:n.19+38194_19+38199delinsAGCATC
NM_006640.4:c.-579_-574delinsAGCATC	NP_006631.2:n.-579_-574delinsAGCATC
XM_006721643.2:c.-417+12551_-417+12556delinsAGCATC	XP_006721706.1:n.-417+12551_-417+12556delinsAGCATC
XM_011524204.1:c.169+12551_169+12556delinsAGCATC	XP_011522506.1:n.169+12551_169+12556delinsAGCATC
XM_011524205.1:c.166+12551_166+12556delinsAGCATC	XP_011522507.1:n.166+12551_166+12556delinsAGCATC
NM_001113491.2:c.76+12551_76+12556delinsAGCATC MANE Select	NP_001106963.1:n.76+12551_76+12556delinsAGCATC
NM_001293695.2:c.19+38194_19+38199delinsAGCATC	NP_001280624.1:n.19+38194_19+38199delinsAGCATC
NM_001113492.2:c.-417+12551_-417+12556delinsAGCATC	NP_001106964.1:n.-417+12551_-417+12556delinsAGCATC
NM_006640.5:c.-579_-574delinsAGCATC MANE Plus Clinical	NP_006631.2:n.-579_-574delinsAGCATC