Canonical Allele Identifier: CA627903379

Gene: SEPTIN9

Linked Data

• dbSNP Id: rs1180106828
• gnomAD v2: 17-75316272-CCAGA-C
• gnomAD v3: 17-77320190-CCAGA-C
• gnomAD v4: 17-77320190-CCAGA-C
• MyVariant Identifiers: chr17:g.75316273_75316276del (hg19) ; chr17:g.77320191_77320194del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.77320193_77320196del , CM000679.2:g.77320193_77320196del	GRCh38
NC_000017.10:g.75316275_75316278del , CM000679.1:g.75316275_75316278del	GRCh37
NC_000017.9:g.72827870_72827873del	NCBI36
NG_011683.1:g.43784_43787del
NG_011683.2:g.43784_43787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000329047.13:c.-134_-131del MANE Plus Clinical	ENSP00000329161.8:n.-134_-131del
ENST00000427177.6:c.76+12996_76+12999del MANE Select	ENSP00000391249.1:n.76+12996_76+12999del
ENST00000329047.12:c.-134_-131del	ENSP00000329161.8:n.-134_-131del
ENST00000427177.5:c.76+12996_76+12999del	ENSP00000391249.1:n.76+12996_76+12999del
ENST00000431235.6:c.-417+12996_-417+12999del	ENSP00000406987.2:n.-417+12996_-417+12999del
ENST00000449803.6:c.-417+12996_-417+12999del	ENSP00000400181.2:n.-417+12996_-417+12999del
ENST00000587237.1:n.406+12996_406+12999del
ENST00000588575.1:c.36+390_36+393del	ENSP00000468090.1:n.36+390_36+393del
ENST00000589070.1:c.31+39387_31+39390del	ENSP00000465332.1:n.31+39387_31+39390del
ENST00000590294.5:c.-134_-131del	ENSP00000465464.1:n.-134_-131del
ENST00000590576.5:c.*76+12996_*76+12999del	ENSP00000465600.1:n.*76+12996_*76+12999del
ENST00000590595.1:c.36+390_36+393del	ENSP00000465026.1:n.36+390_36+393del
ENST00000591198.5:c.19+38639_19+38642del	ENSP00000468406.1:n.19+38639_19+38642del
ENST00000591833.5:c.*71+12996_*71+12999del	ENSP00000466684.1:n.*71+12996_*71+12999del
NM_001113491.1:c.76+12996_76+12999del	NP_001106963.1:n.76+12996_76+12999del
NM_001113492.1:c.-417+12996_-417+12999del	NP_001106964.1:n.-417+12996_-417+12999del
NM_001293695.1:c.19+38639_19+38642del	NP_001280624.1:n.19+38639_19+38642del
NM_006640.4:c.-134_-131del	NP_006631.2:n.-134_-131del
XM_006721643.2:c.-417+12996_-417+12999del	XP_006721706.1:n.-417+12996_-417+12999del
XM_011524204.1:c.169+12996_169+12999del	XP_011522506.1:n.169+12996_169+12999del
XM_011524205.1:c.166+12996_166+12999del	XP_011522507.1:n.166+12996_166+12999del
NM_001113491.2:c.76+12996_76+12999del MANE Select	NP_001106963.1:n.76+12996_76+12999del
NM_001293695.2:c.19+38639_19+38642del	NP_001280624.1:n.19+38639_19+38642del
NM_001113492.2:c.-417+12996_-417+12999del	NP_001106964.1:n.-417+12996_-417+12999del
NM_006640.5:c.-134_-131del MANE Plus Clinical	NP_006631.2:n.-134_-131del