Canonical Allele Identifier: CA2723240390
Gene: RIC3 HGNC NCBI

Linked Data

dbSNP Id: rs2133664900

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8128273_8128274del , CM000673.2:g.8128273_8128274del GRCh38
NC_000011.9:g.8149820_8149821del , CM000673.1:g.8149820_8149821del GRCh37
NC_000011.8:g.8106396_8106397del NCBI36
NG_030416.1:g.45771_45772del
NG_030416.2:g.45771_45772del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699457.1:n.200_201del
ENST00000309737.11:c.522-1466_522-1465del MANE Select ENSP00000308820.6:n.522-1466_522-1465del
ENST00000309737.10:c.522-1466_522-1465del ENSP00000308820.6:n.522-1466_522-1465del
ENST00000335425.7:c.125-17136_125-17135del ENSP00000333988.7:n.125-17136_125-17135del
ENST00000343202.8:c.522-1469_522-1468del ENSP00000344904.4:n.522-1469_522-1468del
ENST00000425599.6:c.427+9999_427+10000del ENSP00000395320.2:n.427+9999_427+10000del
ENST00000524799.5:n.383-1469_383-1468del
ENST00000526962.1:c.125-1469_125-1468del ENSP00000434787.1:n.125-1469_125-1468del
ENST00000528463.5:c.*439-1466_*439-1465del ENSP00000435244.1:n.*439-1466_*439-1465del
ENST00000530060.5:n.683_684del
ENST00000531450.1:c.522-1382_522-1381del ENSP00000431658.1:n.522-1382_522-1381del
NM_001135109.2:c.125-17136_125-17135del NP_001128581.1:n.125-17136_125-17135del
NM_001206671.2:c.522-1466_522-1465del NP_001193600.1:n.522-1466_522-1465del
NM_001206672.2:c.427+9999_427+10000del NP_001193601.1:n.427+9999_427+10000del
NM_024557.4:c.522-1469_522-1468del NP_078833.3:n.522-1469_522-1468del
NR_045405.1:n.625-1466_625-1465del
XM_006718317.2:c.522-1382_522-1381del XP_006718380.1:n.522-1382_522-1381del
XM_006718318.2:c.522-1469_522-1468del XP_006718381.1:n.522-1469_522-1468del
XR_428848.2:n.616-1382_616-1381del
XR_428851.2:n.616-1382_616-1381del
XR_930896.1:n.616-1382_616-1381del
XR_930897.1:n.616-1382_616-1381del
XR_930898.1:n.616-1382_616-1381del
XR_930899.1:n.616-1382_616-1381del
XR_930900.1:n.616-1382_616-1381del
XR_930901.1:n.616-1466_616-1465del
XR_930902.1:n.616-1469_616-1468del
XR_930903.1:n.617-1466_617-1465del
XR_930904.1:n.620_621del
XR_930905.1:n.683_684del
XR_930906.1:n.697_698del
NM_001135109.3:c.125-17136_125-17135del NP_001128581.1:n.125-17136_125-17135del
NM_001206671.3:c.522-1466_522-1465del NP_001193600.1:n.522-1466_522-1465del
NM_001206672.3:c.427+9999_427+10000del NP_001193601.1:n.427+9999_427+10000del
NM_001346690.1:c.-17_-16del NP_001333619.1:n.-17_-16del
NM_001346691.1:c.521+9105_521+9106del NP_001333620.1:n.521+9105_521+9106del
NM_001346692.1:c.375-1469_375-1468del NP_001333621.1:n.375-1469_375-1468del
NM_001346693.1:c.375-1382_375-1381del NP_001333622.1:n.375-1382_375-1381del
NM_001346694.1:c.375-1466_375-1465del NP_001333623.1:n.375-1466_375-1465del
NM_024557.5:c.522-1469_522-1468del NP_078833.3:n.522-1469_522-1468del
NR_144484.1:n.533-1469_533-1468del
NR_144485.1:n.676-1469_676-1468del
NR_144497.1:n.230-1469_230-1468del
XM_006718317.4:c.522-1382_522-1381del XP_006718380.1:n.522-1382_522-1381del
XM_006718318.4:c.522-1469_522-1468del XP_006718381.1:n.522-1469_522-1468del
XM_017018287.2:c.522-1382_522-1381del XP_016873776.1:n.522-1382_522-1381del
XM_024448684.1:c.375-1469_375-1468del XP_024304452.1:n.375-1469_375-1468del
XM_024448685.1:c.540_541del XP_024304453.1:p.Tyr180Ter
XM_024448686.1:c.540_541del XP_024304454.1:p.Tyr180Ter
XR_001747957.2:n.554-1469_554-1468del
XR_001747959.2:n.2240_2241del
XR_002957192.1:n.554-1469_554-1468del
XR_002957193.1:n.554-1469_554-1468del
XR_002957194.1:n.622-1382_622-1381del
XR_002957195.1:n.553+9105_553+9106del
XR_428848.4:n.554-1382_554-1381del
XR_428851.4:n.554-1382_554-1381del
XR_930896.3:n.554-1382_554-1381del
XR_930897.3:n.554-1382_554-1381del
XR_930898.3:n.554-1382_554-1381del
XR_930900.3:n.554-1382_554-1381del
XR_930901.3:n.554-1466_554-1465del
XR_930903.3:n.622-1466_622-1465del
XR_930904.3:n.2240_2241del
XR_930905.3:n.2303_2304del
NM_001206671.4:c.522-1466_522-1465del MANE Select NP_001193600.1:n.522-1466_522-1465del
NM_001135109.4:c.125-17136_125-17135del NP_001128581.1:n.125-17136_125-17135del
NM_001206672.4:c.427+9999_427+10000del NP_001193601.1:n.427+9999_427+10000del
NM_001346690.2:c.-17_-16del NP_001333619.1:n.-17_-16del
NM_001346691.2:c.521+9105_521+9106del NP_001333620.1:n.521+9105_521+9106del
NM_001346692.2:c.375-1469_375-1468del NP_001333621.1:n.375-1469_375-1468del
NM_001346693.2:c.375-1382_375-1381del NP_001333622.1:n.375-1382_375-1381del
NM_001346694.2:c.375-1466_375-1465del NP_001333623.1:n.375-1466_375-1465del
NM_024557.6:c.522-1469_522-1468del NP_078833.3:n.522-1469_522-1468del
NR_144484.2:n.464-1469_464-1468del
NR_144485.2:n.607-1469_607-1468del
NR_144497.2:n.161-1469_161-1468del