Canonical Allele Identifier: CA2640072856

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319909-T-TGAGAGAGGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319910_77319911insAGAGAGGGAGGG , CM000679.2:g.77319910_77319911insAGAGAGGGAGGG	GRCh38
NC_000017.10:g.75315992_75315993insAGAGAGGGAGGG , CM000679.1:g.75315992_75315993insAGAGAGGGAGGG	GRCh37
NC_000017.9:g.72827587_72827588insAGAGAGGGAGGG	NCBI36
NG_011683.1:g.43501_43502insAGAGAGGGAGGG
NG_011683.2:g.43501_43502insAGAGAGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-417_-416insAGAGAGGGAGGG MANE Plus Clinical	ENSP00000329161.8:n.-417_-416insAGAGAGGGAGGG
ENST00000427177.6:c.76+12713_76+12714insAGAGAGGGAGGG MANE Select	ENSP00000391249.1:n.76+12713_76+12714insAGAGAGGGAGGG
ENST00000329047.12:c.-417_-416insAGAGAGGGAGGG	ENSP00000329161.8:n.-417_-416insAGAGAGGGAGGG
ENST00000427177.5:c.76+12713_76+12714insAGAGAGGGAGGG	ENSP00000391249.1:n.76+12713_76+12714insAGAGAGGGAGGG
ENST00000431235.6:c.-417+12713_-417+12714insAGAGAGGGAGGG	ENSP00000406987.2:n.-417+12713_-417+12714insAGAGAGGGAGGG
ENST00000449803.6:c.-417+12713_-417+12714insAGAGAGGGAGGG	ENSP00000400181.2:n.-417+12713_-417+12714insAGAGAGGGAGGG
ENST00000587237.1:n.406+12713_406+12714insAGAGAGGGAGGG
ENST00000588575.1:c.36+107_36+108insAGAGAGGGAGGG	ENSP00000468090.1:n.36+107_36+108insAGAGAGGGAGGG
ENST00000589070.1:c.31+39104_31+39105insAGAGAGGGAGGG	ENSP00000465332.1:n.31+39104_31+39105insAGAGAGGGAGGG
ENST00000590294.5:c.-417_-416insAGAGAGGGAGGG	ENSP00000465464.1:n.-417_-416insAGAGAGGGAGGG
ENST00000590576.5:c.*76+12713_*76+12714insAGAGAGGGAGGG	ENSP00000465600.1:n.*76+12713_*76+12714insAGAGAGGGAGGG
ENST00000590595.1:c.36+107_36+108insAGAGAGGGAGGG	ENSP00000465026.1:n.36+107_36+108insAGAGAGGGAGGG
ENST00000591198.5:c.19+38356_19+38357insAGAGAGGGAGGG	ENSP00000468406.1:n.19+38356_19+38357insAGAGAGGGAGGG
ENST00000591833.5:c.*71+12713_*71+12714insAGAGAGGGAGGG	ENSP00000466684.1:n.*71+12713_*71+12714insAGAGAGGGAGGG
NM_001113491.1:c.76+12713_76+12714insAGAGAGGGAGGG	NP_001106963.1:n.76+12713_76+12714insAGAGAGGGAGGG
NM_001113492.1:c.-417+12713_-417+12714insAGAGAGGGAGGG	NP_001106964.1:n.-417+12713_-417+12714insAGAGAGGGAGGG
NM_001293695.1:c.19+38356_19+38357insAGAGAGGGAGGG	NP_001280624.1:n.19+38356_19+38357insAGAGAGGGAGGG
NM_006640.4:c.-417_-416insAGAGAGGGAGGG	NP_006631.2:n.-417_-416insAGAGAGGGAGGG
XM_006721643.2:c.-417+12713_-417+12714insAGAGAGGGAGGG	XP_006721706.1:n.-417+12713_-417+12714insAGAGAGGGAGGG
XM_011524204.1:c.169+12713_169+12714insAGAGAGGGAGGG	XP_011522506.1:n.169+12713_169+12714insAGAGAGGGAGGG
XM_011524205.1:c.166+12713_166+12714insAGAGAGGGAGGG	XP_011522507.1:n.166+12713_166+12714insAGAGAGGGAGGG
NM_001113491.2:c.76+12713_76+12714insAGAGAGGGAGGG MANE Select	NP_001106963.1:n.76+12713_76+12714insAGAGAGGGAGGG
NM_001293695.2:c.19+38356_19+38357insAGAGAGGGAGGG	NP_001280624.1:n.19+38356_19+38357insAGAGAGGGAGGG
NM_001113492.2:c.-417+12713_-417+12714insAGAGAGGGAGGG	NP_001106964.1:n.-417+12713_-417+12714insAGAGAGGGAGGG
NM_006640.5:c.-417_-416insAGAGAGGGAGGG MANE Plus Clinical	NP_006631.2:n.-417_-416insAGAGAGGGAGGG