Canonical Allele Identifier: CA294669573

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs1020555194
• gnomAD v2: 17-75315884-CTG-C
• gnomAD v3: 17-77319802-CTG-C
• gnomAD v4: 17-77319802-CTG-C
• MyVariant Identifiers: chr17:g.75315885_75315886del (hg19) ; chr17:g.77319803_77319804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319805_77319806del , CM000679.2:g.77319805_77319806del	GRCh38
NC_000017.10:g.75315887_75315888del , CM000679.1:g.75315887_75315888del	GRCh37
NC_000017.9:g.72827482_72827483del	NCBI36
NG_011683.1:g.43396_43397del
NG_011683.2:g.43396_43397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-522_-521del MANE Plus Clinical	ENSP00000329161.8:n.-522_-521del
ENST00000427177.6:c.76+12608_76+12609del MANE Select	ENSP00000391249.1:n.76+12608_76+12609del
ENST00000329047.12:c.-522_-521del	ENSP00000329161.8:n.-522_-521del
ENST00000427177.5:c.76+12608_76+12609del	ENSP00000391249.1:n.76+12608_76+12609del
ENST00000431235.6:c.-417+12608_-417+12609del	ENSP00000406987.2:n.-417+12608_-417+12609del
ENST00000449803.6:c.-417+12608_-417+12609del	ENSP00000400181.2:n.-417+12608_-417+12609del
ENST00000587237.1:n.406+12608_406+12609del
ENST00000588575.1:c.36+2_36+3del
ENST00000589070.1:c.31+38999_31+39000del	ENSP00000465332.1:n.31+38999_31+39000del
ENST00000590294.5:c.-522_-521del	ENSP00000465464.1:n.-522_-521del
ENST00000590576.5:c.*76+12608_*76+12609del	ENSP00000465600.1:n.*76+12608_*76+12609del
ENST00000590595.1:c.36+2_36+3del
ENST00000591198.5:c.19+38251_19+38252del	ENSP00000468406.1:n.19+38251_19+38252del
ENST00000591833.5:c.*71+12608_*71+12609del	ENSP00000466684.1:n.*71+12608_*71+12609del
NM_001113491.1:c.76+12608_76+12609del	NP_001106963.1:n.76+12608_76+12609del
NM_001113492.1:c.-417+12608_-417+12609del	NP_001106964.1:n.-417+12608_-417+12609del
NM_001293695.1:c.19+38251_19+38252del	NP_001280624.1:n.19+38251_19+38252del
NM_006640.4:c.-522_-521del	NP_006631.2:n.-522_-521del
XM_006721643.2:c.-417+12608_-417+12609del	XP_006721706.1:n.-417+12608_-417+12609del
XM_011524204.1:c.169+12608_169+12609del	XP_011522506.1:n.169+12608_169+12609del
XM_011524205.1:c.166+12608_166+12609del	XP_011522507.1:n.166+12608_166+12609del
NM_001113491.2:c.76+12608_76+12609del MANE Select	NP_001106963.1:n.76+12608_76+12609del
NM_001293695.2:c.19+38251_19+38252del	NP_001280624.1:n.19+38251_19+38252del
NM_001113492.2:c.-417+12608_-417+12609del	NP_001106964.1:n.-417+12608_-417+12609del
NM_006640.5:c.-522_-521del MANE Plus Clinical	NP_006631.2:n.-522_-521del