Canonical Allele Identifier: CA2276422831

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs2032856635
• gnomAD v4: 17-77320195-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77320197_77320198del , CM000679.2:g.77320197_77320198del	GRCh38
NC_000017.10:g.75316279_75316280del , CM000679.1:g.75316279_75316280del	GRCh37
NC_000017.9:g.72827874_72827875del	NCBI36
NG_011683.1:g.43788_43789del
NG_011683.2:g.43788_43789del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.-130_-129del MANE Plus Clinical	ENSP00000329161.8:n.-130_-129del
ENST00000427177.6:c.76+13000_76+13001del MANE Select	ENSP00000391249.1:n.76+13000_76+13001del
ENST00000329047.12:c.-130_-129del	ENSP00000329161.8:n.-130_-129del
ENST00000427177.5:c.76+13000_76+13001del	ENSP00000391249.1:n.76+13000_76+13001del
ENST00000431235.6:c.-417+13000_-417+13001del	ENSP00000406987.2:n.-417+13000_-417+13001del
ENST00000449803.6:c.-417+13000_-417+13001del	ENSP00000400181.2:n.-417+13000_-417+13001del
ENST00000587237.1:n.406+13000_406+13001del
ENST00000588575.1:c.36+394_36+395del	ENSP00000468090.1:n.36+394_36+395del
ENST00000589070.1:c.31+39391_31+39392del	ENSP00000465332.1:n.31+39391_31+39392del
ENST00000590294.5:c.-130_-129del	ENSP00000465464.1:n.-130_-129del
ENST00000590576.5:c.*76+13000_*76+13001del	ENSP00000465600.1:n.*76+13000_*76+13001del
ENST00000590595.1:c.36+394_36+395del	ENSP00000465026.1:n.36+394_36+395del
ENST00000591198.5:c.19+38643_19+38644del	ENSP00000468406.1:n.19+38643_19+38644del
ENST00000591833.5:c.*71+13000_*71+13001del	ENSP00000466684.1:n.*71+13000_*71+13001del
NM_001113491.1:c.76+13000_76+13001del	NP_001106963.1:n.76+13000_76+13001del
NM_001113492.1:c.-417+13000_-417+13001del	NP_001106964.1:n.-417+13000_-417+13001del
NM_001293695.1:c.19+38643_19+38644del	NP_001280624.1:n.19+38643_19+38644del
NM_006640.4:c.-130_-129del	NP_006631.2:n.-130_-129del
XM_006721643.2:c.-417+13000_-417+13001del	XP_006721706.1:n.-417+13000_-417+13001del
XM_011524204.1:c.169+13000_169+13001del	XP_011522506.1:n.169+13000_169+13001del
XM_011524205.1:c.166+13000_166+13001del	XP_011522507.1:n.166+13000_166+13001del
NM_001113491.2:c.76+13000_76+13001del MANE Select	NP_001106963.1:n.76+13000_76+13001del
NM_001293695.2:c.19+38643_19+38644del	NP_001280624.1:n.19+38643_19+38644del
NM_001113492.2:c.-417+13000_-417+13001del	NP_001106964.1:n.-417+13000_-417+13001del
NM_006640.5:c.-130_-129del MANE Plus Clinical	NP_006631.2:n.-130_-129del