Canonical Allele Identifier: CA2640072599

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319758-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319760_77319761del , CM000679.2:g.77319760_77319761del	GRCh38
NC_000017.10:g.75315842_75315843del , CM000679.1:g.75315842_75315843del	GRCh37
NC_000017.9:g.72827437_72827438del	NCBI36
NG_011683.1:g.43351_43352del
NG_011683.2:g.43351_43352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-567_-566del MANE Plus Clinical	ENSP00000329161.8:n.-567_-566del
ENST00000427177.6:c.76+12563_76+12564del MANE Select	ENSP00000391249.1:n.76+12563_76+12564del
ENST00000329047.12:c.-567_-566del	ENSP00000329161.8:n.-567_-566del
ENST00000427177.5:c.76+12563_76+12564del	ENSP00000391249.1:n.76+12563_76+12564del
ENST00000431235.6:c.-417+12563_-417+12564del	ENSP00000406987.2:n.-417+12563_-417+12564del
ENST00000449803.6:c.-417+12563_-417+12564del	ENSP00000400181.2:n.-417+12563_-417+12564del
ENST00000587237.1:n.406+12563_406+12564del
ENST00000588575.1:c.-8_-7del	ENSP00000468090.1:n.-8_-7del
ENST00000589070.1:c.31+38954_31+38955del	ENSP00000465332.1:n.31+38954_31+38955del
ENST00000590294.5:c.-567_-566del	ENSP00000465464.1:n.-567_-566del
ENST00000590576.5:c.*76+12563_*76+12564del	ENSP00000465600.1:n.*76+12563_*76+12564del
ENST00000590595.1:c.-8_-7del	ENSP00000465026.1:n.-8_-7del
ENST00000591198.5:c.19+38206_19+38207del	ENSP00000468406.1:n.19+38206_19+38207del
ENST00000591833.5:c.*71+12563_*71+12564del	ENSP00000466684.1:n.*71+12563_*71+12564del
NM_001113491.1:c.76+12563_76+12564del	NP_001106963.1:n.76+12563_76+12564del
NM_001113492.1:c.-417+12563_-417+12564del	NP_001106964.1:n.-417+12563_-417+12564del
NM_001293695.1:c.19+38206_19+38207del	NP_001280624.1:n.19+38206_19+38207del
NM_006640.4:c.-567_-566del	NP_006631.2:n.-567_-566del
XM_006721643.2:c.-417+12563_-417+12564del	XP_006721706.1:n.-417+12563_-417+12564del
XM_011524204.1:c.169+12563_169+12564del	XP_011522506.1:n.169+12563_169+12564del
XM_011524205.1:c.166+12563_166+12564del	XP_011522507.1:n.166+12563_166+12564del
NM_001113491.2:c.76+12563_76+12564del MANE Select	NP_001106963.1:n.76+12563_76+12564del
NM_001293695.2:c.19+38206_19+38207del	NP_001280624.1:n.19+38206_19+38207del
NM_001113492.2:c.-417+12563_-417+12564del	NP_001106964.1:n.-417+12563_-417+12564del
NM_006640.5:c.-567_-566del MANE Plus Clinical	NP_006631.2:n.-567_-566del