Canonical Allele Identifier: CA863282180
Gene: RIGI HGNC NCBI

Linked Data

dbSNP Id: rs1407716169
gnomAD v3: 9-32523578-C-CA
gnomAD v4: 9-32523578-C-CA
MyVariant Identifiers: chr9:g.32523576_32523577insA (hg19) chr9:g.32523578_32523579insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32523578_32523579insA , CM000671.2:g.32523578_32523579insA GRCh38
NC_000009.11:g.32523576_32523577insA , CM000671.1:g.32523576_32523577insA GRCh37
NC_000009.10:g.32513576_32513577insA NCBI36
NG_046918.1:g.7746_7747insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000379868.6:c.106+2482_106+2483insT ENSP00000369197.2:n.106+2482_106+2483insT
ENST00000379883.3:c.106+2482_106+2483insT MANE Select ENSP00000369213.2:n.106+2482_106+2483insT
ENST00000679662.1:n.104+2482_104+2483insT
ENST00000679771.1:c.106+2482_106+2483insT ENSP00000505015.1:n.106+2482_106+2483insT
ENST00000679859.1:c.106+2482_106+2483insT ENSP00000505702.1:n.106+2482_106+2483insT
ENST00000680198.1:c.199-22643_199-22642insT ENSP00000505143.1:n.199-22643_199-22642insT
ENST00000680733.1:c.110+2478_110+2479insT ENSP00000504892.1:n.110+2478_110+2479insT
ENST00000680883.1:n.104+2482_104+2483insT
ENST00000681750.1:c.-44-22640_-44-22639insT ENSP00000506413.1:n.-44-22640_-44-22639insT
ENST00000379868.5:c.-356+2482_-356+2483insT ENSP00000369197.1:n.-356+2482_-356+2483insT
ENST00000379883.2:c.106+2482_106+2483insT ENSP00000369213.2:n.106+2482_106+2483insT
NM_014314.3:c.106+2482_106+2483insT NP_055129.2:n.106+2482_106+2483insT
NM_014314.4:c.106+2482_106+2483insT MANE Select NP_055129.2:n.106+2482_106+2483insT
NM_001385907.1:c.106+2482_106+2483insT NP_001372836.1:n.106+2482_106+2483insT
NM_001385909.1:c.106+2482_106+2483insT NP_001372838.1:n.106+2482_106+2483insT
NM_001385910.1:c.-349+2482_-349+2483insT NP_001372839.1:n.-349+2482_-349+2483insT
NM_001385912.1:c.-356+2482_-356+2483insT NP_001372841.1:n.-356+2482_-356+2483insT
NM_001385913.1:c.106+2482_106+2483insT NP_001372842.1:n.106+2482_106+2483insT
NM_001385914.1:c.-349+2482_-349+2483insT NP_001372843.1:n.-349+2482_-349+2483insT
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