Canonical Allele Identifier: CA2640072963

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319967-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319968_77319969del , CM000679.2:g.77319968_77319969del	GRCh38
NC_000017.10:g.75316050_75316051del , CM000679.1:g.75316050_75316051del	GRCh37
NC_000017.9:g.72827645_72827646del	NCBI36
NG_011683.1:g.43559_43560del
NG_011683.2:g.43559_43560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-359_-358del MANE Plus Clinical	ENSP00000329161.8:n.-359_-358del
ENST00000427177.6:c.76+12771_76+12772del MANE Select	ENSP00000391249.1:n.76+12771_76+12772del
ENST00000329047.12:c.-359_-358del	ENSP00000329161.8:n.-359_-358del
ENST00000427177.5:c.76+12771_76+12772del	ENSP00000391249.1:n.76+12771_76+12772del
ENST00000431235.6:c.-417+12771_-417+12772del	ENSP00000406987.2:n.-417+12771_-417+12772del
ENST00000449803.6:c.-417+12771_-417+12772del	ENSP00000400181.2:n.-417+12771_-417+12772del
ENST00000587237.1:n.406+12771_406+12772del
ENST00000588575.1:c.36+165_36+166del	ENSP00000468090.1:n.36+165_36+166del
ENST00000589070.1:c.31+39162_31+39163del	ENSP00000465332.1:n.31+39162_31+39163del
ENST00000590294.5:c.-359_-358del	ENSP00000465464.1:n.-359_-358del
ENST00000590576.5:c.*76+12771_*76+12772del	ENSP00000465600.1:n.*76+12771_*76+12772del
ENST00000590595.1:c.36+165_36+166del	ENSP00000465026.1:n.36+165_36+166del
ENST00000591198.5:c.19+38414_19+38415del	ENSP00000468406.1:n.19+38414_19+38415del
ENST00000591833.5:c.*71+12771_*71+12772del	ENSP00000466684.1:n.*71+12771_*71+12772del
NM_001113491.1:c.76+12771_76+12772del	NP_001106963.1:n.76+12771_76+12772del
NM_001113492.1:c.-417+12771_-417+12772del	NP_001106964.1:n.-417+12771_-417+12772del
NM_001293695.1:c.19+38414_19+38415del	NP_001280624.1:n.19+38414_19+38415del
NM_006640.4:c.-359_-358del	NP_006631.2:n.-359_-358del
XM_006721643.2:c.-417+12771_-417+12772del	XP_006721706.1:n.-417+12771_-417+12772del
XM_011524204.1:c.169+12771_169+12772del	XP_011522506.1:n.169+12771_169+12772del
XM_011524205.1:c.166+12771_166+12772del	XP_011522507.1:n.166+12771_166+12772del
NM_001113491.2:c.76+12771_76+12772del MANE Select	NP_001106963.1:n.76+12771_76+12772del
NM_001293695.2:c.19+38414_19+38415del	NP_001280624.1:n.19+38414_19+38415del
NM_001113492.2:c.-417+12771_-417+12772del	NP_001106964.1:n.-417+12771_-417+12772del
NM_006640.5:c.-359_-358del MANE Plus Clinical	NP_006631.2:n.-359_-358del