Canonical Allele Identifier: CA5158212

Gene: INVS

Linked Data

• dbSNP Id: rs759813479
• ExAC: 9:103002355 CAG / C
• gnomAD v2: 9-103002355-CAG-C
• gnomAD v3: 9-100240073-CAG-C
• gnomAD v4: 9-100240073-CAG-C
• MyVariant Identifiers: chr9:g.103002356_103002357del (hg19) ; chr9:g.100240074_100240075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100240076_100240077del , CM000671.2:g.100240076_100240077del	GRCh38
NC_000009.11:g.103002358_103002359del , CM000671.1:g.103002358_103002359del	GRCh37
NC_000009.10:g.102042179_102042180del	NCBI36
NG_008316.1:g.145848_145849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262457.7:c.632_633del MANE Select	ENSP00000262457.2:p.Glu211ValfsTer20
ENST00000262456.6:c.632_633del	ENSP00000262456.2:p.Glu211ValfsTer20
ENST00000262457.6:c.632_633del	ENSP00000262457.2:p.Glu211ValfsTer20
ENST00000460636.2:n.904_905del
NM_014425.3:c.632_633del	NP_055240.2:p.Glu211ValfsTer20
NM_183245.2:c.632_633del	NP_899068.1:p.Glu211ValfsTer20
NR_051962.1:n.941_942del
XM_005251923.3:c.632_633del	XP_005251980.1:p.Glu211ValfsTer20
XM_005251924.3:c.344_345del	XP_005251981.1:p.Glu115ValfsTer20
XM_011518531.1:c.632_633del	XP_011516833.1:p.Glu211ValfsTer20
XM_011518532.1:c.632_633del	XP_011516834.1:p.Glu211ValfsTer20
XM_011518533.1:c.632_633del	XP_011516835.1:p.Glu211ValfsTer20
XM_011518534.1:c.344_345del	XP_011516836.1:p.Glu115ValfsTer20
XM_011518535.1:c.344_345del	XP_011516837.1:p.Glu115ValfsTer20
XM_011518536.1:c.344_345del	XP_011516838.1:p.Glu115ValfsTer20
XM_011518537.1:c.344_345del	XP_011516839.1:p.Glu115ValfsTer20
XM_011518538.1:c.344_345del	XP_011516840.1:p.Glu115ValfsTer20
XM_011518539.1:c.311_312del	XP_011516841.1:p.Glu104ValfsTer20
XM_011518540.1:c.311_312del	XP_011516842.1:p.Glu104ValfsTer20
XM_011518541.1:c.311_312del	XP_011516843.1:p.Glu104ValfsTer20
XM_011518542.1:c.344_345del	XP_011516844.1:p.Glu115ValfsTer20
XM_011518543.1:c.-358_-357del	XP_011516845.1:n.-358_-357del
XR_242585.1:n.888_889del
XR_242586.1:n.888_889del
XR_428522.1:n.888_889del
NM_001318381.1:c.344_345del	NP_001305310.1:p.Glu115ValfsTer20
NM_001318382.1:c.-358_-357del	NP_001305311.1:n.-358_-357del
NM_014425.4:c.632_633del	NP_055240.2:p.Glu211ValfsTer20
NR_134606.1:n.888_889del
NM_014425.5:c.632_633del MANE Select	NP_055240.2:p.Glu211ValfsTer20
NM_001318381.2:c.344_345del	NP_001305310.1:p.Glu115ValfsTer20
NM_001318382.2:c.-358_-357del	NP_001305311.1:n.-358_-357del
NR_134606.2:n.830_831del