Canonical Allele Identifier: CA775261301

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs1399522134
• gnomAD v3: 17-77320080-CGTTTT-C
• gnomAD v4: 17-77320080-CGTTTT-C
• MyVariant Identifiers: chr17:g.75316163_75316167del (hg19) ; chr17:g.77320081_77320085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77320082_77320086del , CM000679.2:g.77320082_77320086del	GRCh38
NC_000017.10:g.75316164_75316168del , CM000679.1:g.75316164_75316168del	GRCh37
NC_000017.9:g.72827759_72827763del	NCBI36
NG_011683.1:g.43673_43677del
NG_011683.2:g.43673_43677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-245_-241del MANE Plus Clinical	ENSP00000329161.8:n.-245_-241del
ENST00000427177.6:c.76+12885_76+12889del MANE Select	ENSP00000391249.1:n.76+12885_76+12889del
ENST00000329047.12:c.-245_-241del	ENSP00000329161.8:n.-245_-241del
ENST00000427177.5:c.76+12885_76+12889del	ENSP00000391249.1:n.76+12885_76+12889del
ENST00000431235.6:c.-417+12885_-417+12889del	ENSP00000406987.2:n.-417+12885_-417+12889del
ENST00000449803.6:c.-417+12885_-417+12889del	ENSP00000400181.2:n.-417+12885_-417+12889del
ENST00000587237.1:n.406+12885_406+12889del
ENST00000588575.1:c.36+279_36+283del	ENSP00000468090.1:n.36+279_36+283del
ENST00000589070.1:c.31+39276_31+39280del	ENSP00000465332.1:n.31+39276_31+39280del
ENST00000590294.5:c.-245_-241del	ENSP00000465464.1:n.-245_-241del
ENST00000590576.5:c.*76+12885_*76+12889del	ENSP00000465600.1:n.*76+12885_*76+12889del
ENST00000590595.1:c.36+279_36+283del	ENSP00000465026.1:n.36+279_36+283del
ENST00000591198.5:c.19+38528_19+38532del	ENSP00000468406.1:n.19+38528_19+38532del
ENST00000591833.5:c.*71+12885_*71+12889del	ENSP00000466684.1:n.*71+12885_*71+12889del
NM_001113491.1:c.76+12885_76+12889del	NP_001106963.1:n.76+12885_76+12889del
NM_001113492.1:c.-417+12885_-417+12889del	NP_001106964.1:n.-417+12885_-417+12889del
NM_001293695.1:c.19+38528_19+38532del	NP_001280624.1:n.19+38528_19+38532del
NM_006640.4:c.-245_-241del	NP_006631.2:n.-245_-241del
XM_006721643.2:c.-417+12885_-417+12889del	XP_006721706.1:n.-417+12885_-417+12889del
XM_011524204.1:c.169+12885_169+12889del	XP_011522506.1:n.169+12885_169+12889del
XM_011524205.1:c.166+12885_166+12889del	XP_011522507.1:n.166+12885_166+12889del
NM_001113491.2:c.76+12885_76+12889del MANE Select	NP_001106963.1:n.76+12885_76+12889del
NM_001293695.2:c.19+38528_19+38532del	NP_001280624.1:n.19+38528_19+38532del
NM_001113492.2:c.-417+12885_-417+12889del	NP_001106964.1:n.-417+12885_-417+12889del
NM_006640.5:c.-245_-241del MANE Plus Clinical	NP_006631.2:n.-245_-241del