Canonical Allele Identifier: CA2640072804

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319882-G-GCTTGGACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319882_77319883insCTTGGACCT , CM000679.2:g.77319882_77319883insCTTGGACCT	GRCh38
NC_000017.10:g.75315964_75315965insCTTGGACCT , CM000679.1:g.75315964_75315965insCTTGGACCT	GRCh37
NC_000017.9:g.72827559_72827560insCTTGGACCT	NCBI36
NG_011683.1:g.43473_43474insCTTGGACCT
NG_011683.2:g.43473_43474insCTTGGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-445_-444insCTTGGACCT MANE Plus Clinical	ENSP00000329161.8:n.-445_-444insCTTGGACCT
ENST00000427177.6:c.76+12685_76+12686insCTTGGACCT MANE Select	ENSP00000391249.1:n.76+12685_76+12686insCTTGGACCT
ENST00000329047.12:c.-445_-444insCTTGGACCT	ENSP00000329161.8:n.-445_-444insCTTGGACCT
ENST00000427177.5:c.76+12685_76+12686insCTTGGACCT	ENSP00000391249.1:n.76+12685_76+12686insCTTGGACCT
ENST00000431235.6:c.-417+12685_-417+12686insCTTGGACCT	ENSP00000406987.2:n.-417+12685_-417+12686insCTTGGACCT
ENST00000449803.6:c.-417+12685_-417+12686insCTTGGACCT	ENSP00000400181.2:n.-417+12685_-417+12686insCTTGGACCT
ENST00000587237.1:n.406+12685_406+12686insCTTGGACCT
ENST00000588575.1:c.36+79_36+80insCTTGGACCT	ENSP00000468090.1:n.36+79_36+80insCTTGGACCT
ENST00000589070.1:c.31+39076_31+39077insCTTGGACCT	ENSP00000465332.1:n.31+39076_31+39077insCTTGGACCT
ENST00000590294.5:c.-445_-444insCTTGGACCT	ENSP00000465464.1:n.-445_-444insCTTGGACCT
ENST00000590576.5:c.*76+12685_*76+12686insCTTGGACCT	ENSP00000465600.1:n.*76+12685_*76+12686insCTTGGACCT
ENST00000590595.1:c.36+79_36+80insCTTGGACCT	ENSP00000465026.1:n.36+79_36+80insCTTGGACCT
ENST00000591198.5:c.19+38328_19+38329insCTTGGACCT	ENSP00000468406.1:n.19+38328_19+38329insCTTGGACCT
ENST00000591833.5:c.*71+12685_*71+12686insCTTGGACCT	ENSP00000466684.1:n.*71+12685_*71+12686insCTTGGACCT
NM_001113491.1:c.76+12685_76+12686insCTTGGACCT	NP_001106963.1:n.76+12685_76+12686insCTTGGACCT
NM_001113492.1:c.-417+12685_-417+12686insCTTGGACCT	NP_001106964.1:n.-417+12685_-417+12686insCTTGGACCT
NM_001293695.1:c.19+38328_19+38329insCTTGGACCT	NP_001280624.1:n.19+38328_19+38329insCTTGGACCT
NM_006640.4:c.-445_-444insCTTGGACCT	NP_006631.2:n.-445_-444insCTTGGACCT
XM_006721643.2:c.-417+12685_-417+12686insCTTGGACCT	XP_006721706.1:n.-417+12685_-417+12686insCTTGGACCT
XM_011524204.1:c.169+12685_169+12686insCTTGGACCT	XP_011522506.1:n.169+12685_169+12686insCTTGGACCT
XM_011524205.1:c.166+12685_166+12686insCTTGGACCT	XP_011522507.1:n.166+12685_166+12686insCTTGGACCT
NM_001113491.2:c.76+12685_76+12686insCTTGGACCT MANE Select	NP_001106963.1:n.76+12685_76+12686insCTTGGACCT
NM_001293695.2:c.19+38328_19+38329insCTTGGACCT	NP_001280624.1:n.19+38328_19+38329insCTTGGACCT
NM_001113492.2:c.-417+12685_-417+12686insCTTGGACCT	NP_001106964.1:n.-417+12685_-417+12686insCTTGGACCT
NM_006640.5:c.-445_-444insCTTGGACCT MANE Plus Clinical	NP_006631.2:n.-445_-444insCTTGGACCT