Canonical Allele Identifier: CA2276422632

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319802_77319804delinsCTG , CM000679.2:g.77319802_77319804delinsCTG	GRCh38
NC_000017.10:g.75315884_75315886delinsCTG , CM000679.1:g.75315884_75315886delinsCTG	GRCh37
NC_000017.9:g.72827479_72827481delinsCTG	NCBI36
NG_011683.1:g.43393_43395delinsCTG
NG_011683.2:g.43393_43395delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-525_-523delinsCTG MANE Plus Clinical	ENSP00000329161.8:n.-525_-523delinsCTG
ENST00000427177.6:c.76+12605_76+12607delinsCTG MANE Select	ENSP00000391249.1:n.76+12605_76+12607delinsCTG
ENST00000329047.12:c.-525_-523delinsCTG	ENSP00000329161.8:n.-525_-523delinsCTG
ENST00000427177.5:c.76+12605_76+12607delinsCTG	ENSP00000391249.1:n.76+12605_76+12607delinsCTG
ENST00000431235.6:c.-417+12605_-417+12607delinsCTG	ENSP00000406987.2:n.-417+12605_-417+12607delinsCTG
ENST00000449803.6:c.-417+12605_-417+12607delinsCTG	ENSP00000400181.2:n.-417+12605_-417+12607delinsCTG
ENST00000587237.1:n.406+12605_406+12607delinsCTG
ENST00000588575.1:c.35_36+1delinsCTG
ENST00000589070.1:c.31+38996_31+38998delinsCTG	ENSP00000465332.1:n.31+38996_31+38998delinsCTG
ENST00000590294.5:c.-525_-523delinsCTG	ENSP00000465464.1:n.-525_-523delinsCTG
ENST00000590576.5:c.*76+12605_*76+12607delinsCTG	ENSP00000465600.1:n.*76+12605_*76+12607delinsCTG
ENST00000590595.1:c.35_36+1delinsCTG
ENST00000591198.5:c.19+38248_19+38250delinsCTG	ENSP00000468406.1:n.19+38248_19+38250delinsCTG
ENST00000591833.5:c.*71+12605_*71+12607delinsCTG	ENSP00000466684.1:n.*71+12605_*71+12607delinsCTG
NM_001113491.1:c.76+12605_76+12607delinsCTG	NP_001106963.1:n.76+12605_76+12607delinsCTG
NM_001113492.1:c.-417+12605_-417+12607delinsCTG	NP_001106964.1:n.-417+12605_-417+12607delinsCTG
NM_001293695.1:c.19+38248_19+38250delinsCTG	NP_001280624.1:n.19+38248_19+38250delinsCTG
NM_006640.4:c.-525_-523delinsCTG	NP_006631.2:n.-525_-523delinsCTG
XM_006721643.2:c.-417+12605_-417+12607delinsCTG	XP_006721706.1:n.-417+12605_-417+12607delinsCTG
XM_011524204.1:c.169+12605_169+12607delinsCTG	XP_011522506.1:n.169+12605_169+12607delinsCTG
XM_011524205.1:c.166+12605_166+12607delinsCTG	XP_011522507.1:n.166+12605_166+12607delinsCTG
NM_001113491.2:c.76+12605_76+12607delinsCTG MANE Select	NP_001106963.1:n.76+12605_76+12607delinsCTG
NM_001293695.2:c.19+38248_19+38250delinsCTG	NP_001280624.1:n.19+38248_19+38250delinsCTG
NM_001113492.2:c.-417+12605_-417+12607delinsCTG	NP_001106964.1:n.-417+12605_-417+12607delinsCTG
NM_006640.5:c.-525_-523delinsCTG MANE Plus Clinical	NP_006631.2:n.-525_-523delinsCTG