Canonical Allele Identifier: CA863273377

Gene: RIGI

Linked Data

• dbSNP Id: rs1157615486
• gnomAD v3: 9-32455554-T-TCC
• gnomAD v4: 9-32455554-T-TCC
• MyVariant Identifiers: chr9:g.32455552_32455553insCC (hg19) ; chr9:g.32455554_32455555insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32455556_32455557dup , CM000671.2:g.32455556_32455557dup	GRCh38
NC_000009.11:g.32455554_32455555dup , CM000671.1:g.32455554_32455555dup	GRCh37
NC_000009.10:g.32445554_32445555dup	NCBI36
NG_046918.1:g.75769_75770dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379868.6:c.*1566_*1567dup	ENSP00000369197.2:n.*1566_*1567dup
ENST00000379883.3:c.*1566_*1567dup MANE Select	ENSP00000369213.2:n.*1566_*1567dup
ENST00000679665.1:c.*1566_*1567dup	ENSP00000504921.1:n.*1566_*1567dup
ENST00000679771.1:c.*3767_*3768dup	ENSP00000505015.1:n.*3767_*3768dup
ENST00000680198.1:c.*4112_*4113dup	ENSP00000505143.1:n.*4112_*4113dup
ENST00000681750.1:c.*1566_*1567dup	ENSP00000506413.1:n.*1566_*1567dup
NM_014314.3:c.*1566_*1567dup	NP_055129.2:n.*1566_*1567dup
NM_014314.4:c.*1566_*1567dup MANE Select	NP_055129.2:n.*1566_*1567dup
NM_001385907.1:c.*1566_*1567dup	NP_001372836.1:n.*1566_*1567dup
NM_001385909.1:c.*1566_*1567dup	NP_001372838.1:n.*1566_*1567dup
NM_001385910.1:c.*1566_*1567dup	NP_001372839.1:n.*1566_*1567dup
NM_001385912.1:c.*1566_*1567dup	NP_001372841.1:n.*1566_*1567dup
NM_001385913.1:c.*1566_*1567dup	NP_001372842.1:n.*1566_*1567dup
NM_001385914.1:c.*1566_*1567dup	NP_001372843.1:n.*1566_*1567dup