Canonical Allele Identifier: CA2276422714

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319952_77319955delinsCGGG , CM000679.2:g.77319952_77319955delinsCGGG	GRCh38
NC_000017.10:g.75316034_75316037delinsCGGG , CM000679.1:g.75316034_75316037delinsCGGG	GRCh37
NC_000017.9:g.72827629_72827632delinsCGGG	NCBI36
NG_011683.1:g.43543_43546delinsCGGG
NG_011683.2:g.43543_43546delinsCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-375_-372delinsCGGG MANE Plus Clinical	ENSP00000329161.8:n.-375_-372delinsCGGG
ENST00000427177.6:c.76+12755_76+12758delinsCGGG MANE Select	ENSP00000391249.1:n.76+12755_76+12758delinsCGGG
ENST00000329047.12:c.-375_-372delinsCGGG	ENSP00000329161.8:n.-375_-372delinsCGGG
ENST00000427177.5:c.76+12755_76+12758delinsCGGG	ENSP00000391249.1:n.76+12755_76+12758delinsCGGG
ENST00000431235.6:c.-417+12755_-417+12758delinsCGGG	ENSP00000406987.2:n.-417+12755_-417+12758delinsCGGG
ENST00000449803.6:c.-417+12755_-417+12758delinsCGGG	ENSP00000400181.2:n.-417+12755_-417+12758delinsCGGG
ENST00000587237.1:n.406+12755_406+12758delinsCGGG
ENST00000588575.1:c.36+149_36+152delinsCGGG	ENSP00000468090.1:n.36+149_36+152delinsCGGG
ENST00000589070.1:c.31+39146_31+39149delinsCGGG	ENSP00000465332.1:n.31+39146_31+39149delinsCGGG
ENST00000590294.5:c.-375_-372delinsCGGG	ENSP00000465464.1:n.-375_-372delinsCGGG
ENST00000590576.5:c.*76+12755_*76+12758delinsCGGG	ENSP00000465600.1:n.*76+12755_*76+12758delinsCGGG
ENST00000590595.1:c.36+149_36+152delinsCGGG	ENSP00000465026.1:n.36+149_36+152delinsCGGG
ENST00000591198.5:c.19+38398_19+38401delinsCGGG	ENSP00000468406.1:n.19+38398_19+38401delinsCGGG
ENST00000591833.5:c.*71+12755_*71+12758delinsCGGG	ENSP00000466684.1:n.*71+12755_*71+12758delinsCGGG
NM_001113491.1:c.76+12755_76+12758delinsCGGG	NP_001106963.1:n.76+12755_76+12758delinsCGGG
NM_001113492.1:c.-417+12755_-417+12758delinsCGGG	NP_001106964.1:n.-417+12755_-417+12758delinsCGGG
NM_001293695.1:c.19+38398_19+38401delinsCGGG	NP_001280624.1:n.19+38398_19+38401delinsCGGG
NM_006640.4:c.-375_-372delinsCGGG	NP_006631.2:n.-375_-372delinsCGGG
XM_006721643.2:c.-417+12755_-417+12758delinsCGGG	XP_006721706.1:n.-417+12755_-417+12758delinsCGGG
XM_011524204.1:c.169+12755_169+12758delinsCGGG	XP_011522506.1:n.169+12755_169+12758delinsCGGG
XM_011524205.1:c.166+12755_166+12758delinsCGGG	XP_011522507.1:n.166+12755_166+12758delinsCGGG
NM_001113491.2:c.76+12755_76+12758delinsCGGG MANE Select	NP_001106963.1:n.76+12755_76+12758delinsCGGG
NM_001293695.2:c.19+38398_19+38401delinsCGGG	NP_001280624.1:n.19+38398_19+38401delinsCGGG
NM_001113492.2:c.-417+12755_-417+12758delinsCGGG	NP_001106964.1:n.-417+12755_-417+12758delinsCGGG
NM_006640.5:c.-375_-372delinsCGGG MANE Plus Clinical	NP_006631.2:n.-375_-372delinsCGGG