Canonical Allele Identifier: CA2640072835

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319896-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319900_77319903del , CM000679.2:g.77319900_77319903del	GRCh38
NC_000017.10:g.75315982_75315985del , CM000679.1:g.75315982_75315985del	GRCh37
NC_000017.9:g.72827577_72827580del	NCBI36
NG_011683.1:g.43491_43494del
NG_011683.2:g.43491_43494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-427_-424del MANE Plus Clinical	ENSP00000329161.8:n.-427_-424del
ENST00000427177.6:c.76+12703_76+12706del MANE Select	ENSP00000391249.1:n.76+12703_76+12706del
ENST00000329047.12:c.-427_-424del	ENSP00000329161.8:n.-427_-424del
ENST00000427177.5:c.76+12703_76+12706del	ENSP00000391249.1:n.76+12703_76+12706del
ENST00000431235.6:c.-417+12703_-417+12706del	ENSP00000406987.2:n.-417+12703_-417+12706del
ENST00000449803.6:c.-417+12703_-417+12706del	ENSP00000400181.2:n.-417+12703_-417+12706del
ENST00000587237.1:n.406+12703_406+12706del
ENST00000588575.1:c.36+97_36+100del	ENSP00000468090.1:n.36+97_36+100del
ENST00000589070.1:c.31+39094_31+39097del	ENSP00000465332.1:n.31+39094_31+39097del
ENST00000590294.5:c.-427_-424del	ENSP00000465464.1:n.-427_-424del
ENST00000590576.5:c.*76+12703_*76+12706del	ENSP00000465600.1:n.*76+12703_*76+12706del
ENST00000590595.1:c.36+97_36+100del	ENSP00000465026.1:n.36+97_36+100del
ENST00000591198.5:c.19+38346_19+38349del	ENSP00000468406.1:n.19+38346_19+38349del
ENST00000591833.5:c.*71+12703_*71+12706del	ENSP00000466684.1:n.*71+12703_*71+12706del
NM_001113491.1:c.76+12703_76+12706del	NP_001106963.1:n.76+12703_76+12706del
NM_001113492.1:c.-417+12703_-417+12706del	NP_001106964.1:n.-417+12703_-417+12706del
NM_001293695.1:c.19+38346_19+38349del	NP_001280624.1:n.19+38346_19+38349del
NM_006640.4:c.-427_-424del	NP_006631.2:n.-427_-424del
XM_006721643.2:c.-417+12703_-417+12706del	XP_006721706.1:n.-417+12703_-417+12706del
XM_011524204.1:c.169+12703_169+12706del	XP_011522506.1:n.169+12703_169+12706del
XM_011524205.1:c.166+12703_166+12706del	XP_011522507.1:n.166+12703_166+12706del
NM_001113491.2:c.76+12703_76+12706del MANE Select	NP_001106963.1:n.76+12703_76+12706del
NM_001293695.2:c.19+38346_19+38349del	NP_001280624.1:n.19+38346_19+38349del
NM_001113492.2:c.-417+12703_-417+12706del	NP_001106964.1:n.-417+12703_-417+12706del
NM_006640.5:c.-427_-424del MANE Plus Clinical	NP_006631.2:n.-427_-424del