Canonical Allele Identifier: CA2640072785

Gene: SEPTIN9

Linked Data

• gnomAD v4: 17-77319876-C-CTTTATTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77319876_77319877insTTTATTTAT , CM000679.2:g.77319876_77319877insTTTATTTAT	GRCh38
NC_000017.10:g.75315958_75315959insTTTATTTAT , CM000679.1:g.75315958_75315959insTTTATTTAT	GRCh37
NC_000017.9:g.72827553_72827554insTTTATTTAT	NCBI36
NG_011683.1:g.43467_43468insTTTATTTAT
NG_011683.2:g.43467_43468insTTTATTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329047.13:c.-451_-450insTTTATTTAT MANE Plus Clinical	ENSP00000329161.8:n.-451_-450insTTTATTTAT
ENST00000427177.6:c.76+12679_76+12680insTTTATTTAT MANE Select	ENSP00000391249.1:n.76+12679_76+12680insTTTATTTAT
ENST00000329047.12:c.-451_-450insTTTATTTAT	ENSP00000329161.8:n.-451_-450insTTTATTTAT
ENST00000427177.5:c.76+12679_76+12680insTTTATTTAT	ENSP00000391249.1:n.76+12679_76+12680insTTTATTTAT
ENST00000431235.6:c.-417+12679_-417+12680insTTTATTTAT	ENSP00000406987.2:n.-417+12679_-417+12680insTTTATTTAT
ENST00000449803.6:c.-417+12679_-417+12680insTTTATTTAT	ENSP00000400181.2:n.-417+12679_-417+12680insTTTATTTAT
ENST00000587237.1:n.406+12679_406+12680insTTTATTTAT
ENST00000588575.1:c.36+73_36+74insTTTATTTAT	ENSP00000468090.1:n.36+73_36+74insTTTATTTAT
ENST00000589070.1:c.31+39070_31+39071insTTTATTTAT	ENSP00000465332.1:n.31+39070_31+39071insTTTATTTAT
ENST00000590294.5:c.-451_-450insTTTATTTAT	ENSP00000465464.1:n.-451_-450insTTTATTTAT
ENST00000590576.5:c.*76+12679_*76+12680insTTTATTTAT	ENSP00000465600.1:n.*76+12679_*76+12680insTTTATTTAT
ENST00000590595.1:c.36+73_36+74insTTTATTTAT	ENSP00000465026.1:n.36+73_36+74insTTTATTTAT
ENST00000591198.5:c.19+38322_19+38323insTTTATTTAT	ENSP00000468406.1:n.19+38322_19+38323insTTTATTTAT
ENST00000591833.5:c.*71+12679_*71+12680insTTTATTTAT	ENSP00000466684.1:n.*71+12679_*71+12680insTTTATTTAT
NM_001113491.1:c.76+12679_76+12680insTTTATTTAT	NP_001106963.1:n.76+12679_76+12680insTTTATTTAT
NM_001113492.1:c.-417+12679_-417+12680insTTTATTTAT	NP_001106964.1:n.-417+12679_-417+12680insTTTATTTAT
NM_001293695.1:c.19+38322_19+38323insTTTATTTAT	NP_001280624.1:n.19+38322_19+38323insTTTATTTAT
NM_006640.4:c.-451_-450insTTTATTTAT	NP_006631.2:n.-451_-450insTTTATTTAT
XM_006721643.2:c.-417+12679_-417+12680insTTTATTTAT	XP_006721706.1:n.-417+12679_-417+12680insTTTATTTAT
XM_011524204.1:c.169+12679_169+12680insTTTATTTAT	XP_011522506.1:n.169+12679_169+12680insTTTATTTAT
XM_011524205.1:c.166+12679_166+12680insTTTATTTAT	XP_011522507.1:n.166+12679_166+12680insTTTATTTAT
NM_001113491.2:c.76+12679_76+12680insTTTATTTAT MANE Select	NP_001106963.1:n.76+12679_76+12680insTTTATTTAT
NM_001293695.2:c.19+38322_19+38323insTTTATTTAT	NP_001280624.1:n.19+38322_19+38323insTTTATTTAT
NM_001113492.2:c.-417+12679_-417+12680insTTTATTTAT	NP_001106964.1:n.-417+12679_-417+12680insTTTATTTAT
NM_006640.5:c.-451_-450insTTTATTTAT MANE Plus Clinical	NP_006631.2:n.-451_-450insTTTATTTAT