Canonical Allele Identifier: CA590046836

Gene: INVS

Linked Data

• ClinVar Variation Id: 3022642
• ClinVar RCV Id: RCV003881828
• dbSNP Id: rs1564171882
• gnomAD v2: 9-103002355-C-CA
• gnomAD v4: 9-100240073-C-CA
• MyVariant Identifiers: chr9:g.103002357delinsAG (hg19) ; chr9:g.100240075delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100240074dup , CM000671.2:g.100240074dup	GRCh38
NC_000009.11:g.103002356dup , CM000671.1:g.103002356dup	GRCh37
NC_000009.10:g.102042177dup	NCBI36
NG_008316.1:g.145846dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262457.7:c.630dup MANE Select	ENSP00000262457.2:p.Glu211ArgfsTer21
ENST00000262456.6:c.630dup	ENSP00000262456.2:p.Glu211ArgfsTer21
ENST00000262457.6:c.630dup	ENSP00000262457.2:p.Glu211ArgfsTer21
ENST00000460636.2:n.902dup
NM_014425.3:c.630dup	NP_055240.2:p.Glu211ArgfsTer21
NM_183245.2:c.630dup	NP_899068.1:p.Glu211ArgfsTer21
NR_051962.1:n.939dup
XM_005251923.3:c.630dup	XP_005251980.1:p.Glu211ArgfsTer21
XM_005251924.3:c.342dup	XP_005251981.1:p.Glu115ArgfsTer21
XM_011518531.1:c.630dup	XP_011516833.1:p.Glu211ArgfsTer21
XM_011518532.1:c.630dup	XP_011516834.1:p.Glu211ArgfsTer21
XM_011518533.1:c.630dup	XP_011516835.1:p.Glu211ArgfsTer21
XM_011518534.1:c.342dup	XP_011516836.1:p.Glu115ArgfsTer21
XM_011518535.1:c.342dup	XP_011516837.1:p.Glu115ArgfsTer21
XM_011518536.1:c.342dup	XP_011516838.1:p.Glu115ArgfsTer21
XM_011518537.1:c.342dup	XP_011516839.1:p.Glu115ArgfsTer21
XM_011518538.1:c.342dup	XP_011516840.1:p.Glu115ArgfsTer21
XM_011518539.1:c.309dup	XP_011516841.1:p.Glu104ArgfsTer21
XM_011518540.1:c.309dup	XP_011516842.1:p.Glu104ArgfsTer21
XM_011518541.1:c.309dup	XP_011516843.1:p.Glu104ArgfsTer21
XM_011518542.1:c.342dup	XP_011516844.1:p.Glu115ArgfsTer21
XM_011518543.1:c.-360dup	XP_011516845.1:n.-360dup
XR_242585.1:n.886dup
XR_242586.1:n.886dup
XR_428522.1:n.886dup
NM_001318381.1:c.342dup	NP_001305310.1:p.Glu115ArgfsTer21
NM_001318382.1:c.-360dup	NP_001305311.1:n.-360dup
NM_014425.4:c.630dup	NP_055240.2:p.Glu211ArgfsTer21
NR_134606.1:n.886dup
NM_014425.5:c.630dup MANE Select	NP_055240.2:p.Glu211ArgfsTer21
NM_001318381.2:c.342dup	NP_001305310.1:p.Glu115ArgfsTer21
NM_001318382.2:c.-360dup	NP_001305311.1:n.-360dup
NR_134606.2:n.828dup