Canonical Allele Identifier: CA1844679084

Gene: RIGI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32523881_32523892delinsTCTGAACTCCTG , CM000671.2:g.32523881_32523892delinsTCTGAACTCCTG	GRCh38
NC_000009.11:g.32523879_32523890delinsTCTGAACTCCTG , CM000671.1:g.32523879_32523890delinsTCTGAACTCCTG	GRCh37
NC_000009.10:g.32513879_32513890delinsTCTGAACTCCTG	NCBI36
NG_046918.1:g.7433_7444delinsCAGGAGTTCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379868.6:c.106+2169_106+2180delinsCAGGAGTTCAGA	ENSP00000369197.2:n.106+2169_106+2180delinsCAGGAGTTCAGA
ENST00000379883.3:c.106+2169_106+2180delinsCAGGAGTTCAGA MANE Select	ENSP00000369213.2:n.106+2169_106+2180delinsCAGGAGTTCAGA
ENST00000679662.1:n.104+2169_104+2180delinsCAGGAGTTCAGA
ENST00000679771.1:c.106+2169_106+2180delinsCAGGAGTTCAGA	ENSP00000505015.1:n.106+2169_106+2180delinsCAGGAGTTCAGA
ENST00000679859.1:c.106+2169_106+2180delinsCAGGAGTTCAGA	ENSP00000505702.1:n.106+2169_106+2180delinsCAGGAGTTCAGA
ENST00000680198.1:c.199-22956_199-22945delinsCAGGAGTTCAGA	ENSP00000505143.1:n.199-22956_199-22945delinsCAGGAGTTCAGA
ENST00000680733.1:c.110+2165_110+2176delinsCAGGAGTTCAGA	ENSP00000504892.1:n.110+2165_110+2176delinsCAGGAGTTCAGA
ENST00000680883.1:n.104+2169_104+2180delinsCAGGAGTTCAGA
ENST00000681750.1:c.-44-22953_-44-22942delinsCAGGAGTTCAGA	ENSP00000506413.1:n.-44-22953_-44-22942delinsCAGGAGTTCAGA
ENST00000379868.5:c.-356+2169_-356+2180delinsCAGGAGTTCAGA	ENSP00000369197.1:n.-356+2169_-356+2180delinsCAGGAGTTCAGA
ENST00000379883.2:c.106+2169_106+2180delinsCAGGAGTTCAGA	ENSP00000369213.2:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_014314.3:c.106+2169_106+2180delinsCAGGAGTTCAGA	NP_055129.2:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_014314.4:c.106+2169_106+2180delinsCAGGAGTTCAGA MANE Select	NP_055129.2:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_001385907.1:c.106+2169_106+2180delinsCAGGAGTTCAGA	NP_001372836.1:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_001385909.1:c.106+2169_106+2180delinsCAGGAGTTCAGA	NP_001372838.1:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_001385910.1:c.-349+2169_-349+2180delinsCAGGAGTTCAGA	NP_001372839.1:n.-349+2169_-349+2180delinsCAGGAGTTCAGA
NM_001385912.1:c.-356+2169_-356+2180delinsCAGGAGTTCAGA	NP_001372841.1:n.-356+2169_-356+2180delinsCAGGAGTTCAGA
NM_001385913.1:c.106+2169_106+2180delinsCAGGAGTTCAGA	NP_001372842.1:n.106+2169_106+2180delinsCAGGAGTTCAGA
NM_001385914.1:c.-349+2169_-349+2180delinsCAGGAGTTCAGA	NP_001372843.1:n.-349+2169_-349+2180delinsCAGGAGTTCAGA