Canonical Allele Identifier: CA2640072869

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319916-AGCCGCACTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319918_77319926del , CM000679.2:g.77319918_77319926del	GRCh38
NC_000017.10:g.75316000_75316008del , CM000679.1:g.75316000_75316008del	GRCh37
NC_000017.9:g.72827595_72827603del	NCBI36
NG_011683.1:g.43509_43517del
NG_011683.2:g.43509_43517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-409_-401del MANE Plus Clinical	ENSP00000329161.8:n.-409_-401del
ENST00000427177.6:c.76+12721_76+12729del MANE Select	ENSP00000391249.1:n.76+12721_76+12729del
ENST00000329047.12:c.-409_-401del	ENSP00000329161.8:n.-409_-401del
ENST00000427177.5:c.76+12721_76+12729del	ENSP00000391249.1:n.76+12721_76+12729del
ENST00000431235.6:c.-417+12721_-417+12729del	ENSP00000406987.2:n.-417+12721_-417+12729del
ENST00000449803.6:c.-417+12721_-417+12729del	ENSP00000400181.2:n.-417+12721_-417+12729del
ENST00000587237.1:n.406+12721_406+12729del
ENST00000588575.1:c.36+115_36+123del	ENSP00000468090.1:n.36+115_36+123del
ENST00000589070.1:c.31+39112_31+39120del	ENSP00000465332.1:n.31+39112_31+39120del
ENST00000590294.5:c.-409_-401del	ENSP00000465464.1:n.-409_-401del
ENST00000590576.5:c.*76+12721_*76+12729del	ENSP00000465600.1:n.*76+12721_*76+12729del
ENST00000590595.1:c.36+115_36+123del	ENSP00000465026.1:n.36+115_36+123del
ENST00000591198.5:c.19+38364_19+38372del	ENSP00000468406.1:n.19+38364_19+38372del
ENST00000591833.5:c.*71+12721_*71+12729del	ENSP00000466684.1:n.*71+12721_*71+12729del
NM_001113491.1:c.76+12721_76+12729del	NP_001106963.1:n.76+12721_76+12729del
NM_001113492.1:c.-417+12721_-417+12729del	NP_001106964.1:n.-417+12721_-417+12729del
NM_001293695.1:c.19+38364_19+38372del	NP_001280624.1:n.19+38364_19+38372del
NM_006640.4:c.-409_-401del	NP_006631.2:n.-409_-401del
XM_006721643.2:c.-417+12721_-417+12729del	XP_006721706.1:n.-417+12721_-417+12729del
XM_011524204.1:c.169+12721_169+12729del	XP_011522506.1:n.169+12721_169+12729del
XM_011524205.1:c.166+12721_166+12729del	XP_011522507.1:n.166+12721_166+12729del
NM_001113491.2:c.76+12721_76+12729del MANE Select	NP_001106963.1:n.76+12721_76+12729del
NM_001293695.2:c.19+38364_19+38372del	NP_001280624.1:n.19+38364_19+38372del
NM_001113492.2:c.-417+12721_-417+12729del	NP_001106964.1:n.-417+12721_-417+12729del
NM_006640.5:c.-409_-401del MANE Plus Clinical	NP_006631.2:n.-409_-401del