Canonical Allele Identifier: CA2612590235
Gene: CYP2R1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879399_14879400del , CM000673.2:g.14879399_14879400del GRCh38
NC_000011.9:g.14900945_14900946del , CM000673.1:g.14900945_14900946del GRCh37
NC_000011.8:g.14857521_14857522del NCBI36
NG_007936.1:g.17806_17807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1044_1045del MANE Select ENSP00000334592.5:p.Lys349AlafsTer13
ENST00000334636.9:c.1044_1045del ENSP00000334592.5:p.Lys349AlafsTer13
ENST00000525015.1:c.67-193_67-192del
ENST00000530609.5:c.*640_*641del ENSP00000466060.1:n.*640_*641del
ENST00000532378.5:c.345_346del ENSP00000435484.1:p.Lys116AlafsTer13
ENST00000532805.1:c.*353-201_*353-200del ENSP00000465097.1:n.*353-201_*353-200del
ENST00000534686.5:c.*597-193_*597-192del ENSP00000432087.2:n.*597-193_*597-192del
NM_024514.4:c.1044_1045del NP_078790.2:p.Lys349AlafsTer13
XM_005252788.1:c.900_901del XP_005252845.1:p.Lys301AlafsTer13
XM_005252789.2:c.882_883del XP_005252846.1:p.Lys295AlafsTer13
XM_005252791.3:c.699_700del XP_005252848.1:p.Lys234AlafsTer13
XM_006718142.2:c.999_1000del XP_006718205.1:p.Lys334AlafsTer13
XM_011519894.1:c.699_700del XP_011518196.1:p.Lys234AlafsTer13
XM_011519895.1:c.699_700del XP_011518197.1:p.Lys234AlafsTer13
XM_011519896.1:c.699_700del XP_011518198.1:p.Lys234AlafsTer13
XM_011519897.1:c.699_700del XP_011518199.1:p.Lys234AlafsTer13
XM_011519898.1:c.699_700del XP_011518200.1:p.Lys234AlafsTer13
XR_242777.2:n.1054-193_1054-192del
XM_005252788.2:c.900_901del XP_005252845.1:p.Lys301AlafsTer13
XM_005252789.3:c.882_883del XP_005252846.1:p.Lys295AlafsTer13
XM_011519895.2:c.699_700del XP_011518197.1:p.Lys234AlafsTer13
XM_011519898.3:c.699_700del XP_011518200.1:p.Lys234AlafsTer13
XM_017017190.2:c.879_880del XP_016872679.1:p.Lys294AlafsTer13
XM_017017191.2:c.699_700del XP_016872680.1:p.Lys234AlafsTer13
XM_017017192.2:c.699_700del XP_016872681.1:p.Lys234AlafsTer13
XM_017017193.2:c.699_700del XP_016872682.1:p.Lys234AlafsTer13
XM_017017194.2:c.699_700del XP_016872683.1:p.Lys234AlafsTer13
XM_024448345.1:c.879_880del XP_024304113.1:p.Lys294AlafsTer13
XM_024448346.1:c.699_700del XP_024304114.1:p.Lys234AlafsTer13
XM_024448347.1:c.699_700del XP_024304115.1:p.Lys234AlafsTer13
XM_024448348.1:c.699_700del XP_024304116.1:p.Lys234AlafsTer13
XR_002957123.1:n.1017-193_1017-192del
XR_002957124.1:n.1283-193_1283-192del
XR_242777.3:n.1054-193_1054-192del
NM_001377214.1:c.699_700del NP_001364143.1:p.Lys234AlafsTer13
NM_001377215.1:c.699_700del NP_001364144.1:p.Lys234AlafsTer13
NM_001377216.1:c.699_700del NP_001364145.1:p.Lys234AlafsTer13
NM_001377217.1:c.882_883del NP_001364146.1:p.Lys295AlafsTer13
NM_001377227.1:c.699_700del NP_001364156.1:p.Lys234AlafsTer13
NM_024514.5:c.1044_1045del MANE Select NP_078790.2:p.Lys349AlafsTer13
NM_001400558.1:c.699_700del NP_001387487.1:p.Lys234AlafsTer13
NM_001400559.1:c.699_700del NP_001387488.1:p.Lys234AlafsTer13
NM_001400560.1:c.699_700del NP_001387489.1:p.Lys234AlafsTer13
NM_001400561.1:c.699_700del NP_001387490.1:p.Lys234AlafsTer13
NM_001400562.1:c.345_346del NP_001387491.1:p.Lys116AlafsTer13
NM_001400563.1:c.345_346del NP_001387492.1:p.Lys116AlafsTer13
NM_001400564.1:c.345_346del NP_001387493.1:p.Lys116AlafsTer13
NM_001400565.1:c.345_346del NP_001387494.1:p.Lys116AlafsTer13
NM_001400566.1:c.66_67del NP_001387495.1:p.Lys23AlafsTer13
NM_001400567.1:c.900_901del NP_001387496.1:p.Lys301AlafsTer13
NM_001400568.1:c.999_1000del NP_001387497.1:p.Lys334AlafsTer13
NR_174512.1:n.1104-193_1104-192del
NR_174513.1:n.953-193_953-192del
NR_174514.1:n.1328-193_1328-192del
NR_174515.1:n.1737-193_1737-192del
NR_174516.1:n.915-193_915-192del
NR_174517.1:n.451-193_451-192del
NR_174518.1:n.1548-193_1548-192del
NR_174519.1:n.1295-193_1295-192del
NR_174520.1:n.1086-193_1086-192del
NR_174521.1:n.1586-193_1586-192del
NR_174522.1:n.1084-193_1084-192del
NR_174523.1:n.1495-193_1495-192del