Canonical Allele Identifier: CA2276422791

Gene: SEPTIN9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77320120_77320122delinsCAT , CM000679.2:g.77320120_77320122delinsCAT	GRCh38
NC_000017.10:g.75316202_75316204delinsCAT , CM000679.1:g.75316202_75316204delinsCAT	GRCh37
NC_000017.9:g.72827797_72827799delinsCAT	NCBI36
NG_011683.1:g.43711_43713delinsCAT
NG_011683.2:g.43711_43713delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-207_-205delinsCAT MANE Plus Clinical	ENSP00000329161.8:n.-207_-205delinsCAT
ENST00000427177.6:c.76+12923_76+12925delinsCAT MANE Select	ENSP00000391249.1:n.76+12923_76+12925delinsCAT
ENST00000329047.12:c.-207_-205delinsCAT	ENSP00000329161.8:n.-207_-205delinsCAT
ENST00000427177.5:c.76+12923_76+12925delinsCAT	ENSP00000391249.1:n.76+12923_76+12925delinsCAT
ENST00000431235.6:c.-417+12923_-417+12925delinsCAT	ENSP00000406987.2:n.-417+12923_-417+12925delinsCAT
ENST00000449803.6:c.-417+12923_-417+12925delinsCAT	ENSP00000400181.2:n.-417+12923_-417+12925delinsCAT
ENST00000587237.1:n.406+12923_406+12925delinsCAT
ENST00000588575.1:c.36+317_36+319delinsCAT	ENSP00000468090.1:n.36+317_36+319delinsCAT
ENST00000589070.1:c.31+39314_31+39316delinsCAT	ENSP00000465332.1:n.31+39314_31+39316delinsCAT
ENST00000590294.5:c.-207_-205delinsCAT	ENSP00000465464.1:n.-207_-205delinsCAT
ENST00000590576.5:c.*76+12923_*76+12925delinsCAT	ENSP00000465600.1:n.*76+12923_*76+12925delinsCAT
ENST00000590595.1:c.36+317_36+319delinsCAT	ENSP00000465026.1:n.36+317_36+319delinsCAT
ENST00000591198.5:c.19+38566_19+38568delinsCAT	ENSP00000468406.1:n.19+38566_19+38568delinsCAT
ENST00000591833.5:c.*71+12923_*71+12925delinsCAT	ENSP00000466684.1:n.*71+12923_*71+12925delinsCAT
NM_001113491.1:c.76+12923_76+12925delinsCAT	NP_001106963.1:n.76+12923_76+12925delinsCAT
NM_001113492.1:c.-417+12923_-417+12925delinsCAT	NP_001106964.1:n.-417+12923_-417+12925delinsCAT
NM_001293695.1:c.19+38566_19+38568delinsCAT	NP_001280624.1:n.19+38566_19+38568delinsCAT
NM_006640.4:c.-207_-205delinsCAT	NP_006631.2:n.-207_-205delinsCAT
XM_006721643.2:c.-417+12923_-417+12925delinsCAT	XP_006721706.1:n.-417+12923_-417+12925delinsCAT
XM_011524204.1:c.169+12923_169+12925delinsCAT	XP_011522506.1:n.169+12923_169+12925delinsCAT
XM_011524205.1:c.166+12923_166+12925delinsCAT	XP_011522507.1:n.166+12923_166+12925delinsCAT
NM_001113491.2:c.76+12923_76+12925delinsCAT MANE Select	NP_001106963.1:n.76+12923_76+12925delinsCAT
NM_001293695.2:c.19+38566_19+38568delinsCAT	NP_001280624.1:n.19+38566_19+38568delinsCAT
NM_001113492.2:c.-417+12923_-417+12925delinsCAT	NP_001106964.1:n.-417+12923_-417+12925delinsCAT
NM_006640.5:c.-207_-205delinsCAT MANE Plus Clinical	NP_006631.2:n.-207_-205delinsCAT