Canonical Allele Identifier: CA2640072802

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319881-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319881_77319882insC , CM000679.2:g.77319881_77319882insC	GRCh38
NC_000017.10:g.75315963_75315964insC , CM000679.1:g.75315963_75315964insC	GRCh37
NC_000017.9:g.72827558_72827559insC	NCBI36
NG_011683.1:g.43472_43473insC
NG_011683.2:g.43472_43473insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-446_-445insC MANE Plus Clinical	ENSP00000329161.8:n.-446_-445insC
ENST00000427177.6:c.76+12684_76+12685insC MANE Select	ENSP00000391249.1:n.76+12684_76+12685insC
ENST00000329047.12:c.-446_-445insC	ENSP00000329161.8:n.-446_-445insC
ENST00000427177.5:c.76+12684_76+12685insC	ENSP00000391249.1:n.76+12684_76+12685insC
ENST00000431235.6:c.-417+12684_-417+12685insC	ENSP00000406987.2:n.-417+12684_-417+12685insC
ENST00000449803.6:c.-417+12684_-417+12685insC	ENSP00000400181.2:n.-417+12684_-417+12685insC
ENST00000587237.1:n.406+12684_406+12685insC
ENST00000588575.1:c.36+78_36+79insC	ENSP00000468090.1:n.36+78_36+79insC
ENST00000589070.1:c.31+39075_31+39076insC	ENSP00000465332.1:n.31+39075_31+39076insC
ENST00000590294.5:c.-446_-445insC	ENSP00000465464.1:n.-446_-445insC
ENST00000590576.5:c.*76+12684_*76+12685insC	ENSP00000465600.1:n.*76+12684_*76+12685insC
ENST00000590595.1:c.36+78_36+79insC	ENSP00000465026.1:n.36+78_36+79insC
ENST00000591198.5:c.19+38327_19+38328insC	ENSP00000468406.1:n.19+38327_19+38328insC
ENST00000591833.5:c.*71+12684_*71+12685insC	ENSP00000466684.1:n.*71+12684_*71+12685insC
NM_001113491.1:c.76+12684_76+12685insC	NP_001106963.1:n.76+12684_76+12685insC
NM_001113492.1:c.-417+12684_-417+12685insC	NP_001106964.1:n.-417+12684_-417+12685insC
NM_001293695.1:c.19+38327_19+38328insC	NP_001280624.1:n.19+38327_19+38328insC
NM_006640.4:c.-446_-445insC	NP_006631.2:n.-446_-445insC
XM_006721643.2:c.-417+12684_-417+12685insC	XP_006721706.1:n.-417+12684_-417+12685insC
XM_011524204.1:c.169+12684_169+12685insC	XP_011522506.1:n.169+12684_169+12685insC
XM_011524205.1:c.166+12684_166+12685insC	XP_011522507.1:n.166+12684_166+12685insC
NM_001113491.2:c.76+12684_76+12685insC MANE Select	NP_001106963.1:n.76+12684_76+12685insC
NM_001293695.2:c.19+38327_19+38328insC	NP_001280624.1:n.19+38327_19+38328insC
NM_001113492.2:c.-417+12684_-417+12685insC	NP_001106964.1:n.-417+12684_-417+12685insC
NM_006640.5:c.-446_-445insC MANE Plus Clinical	NP_006631.2:n.-446_-445insC