Canonical Allele Identifier: CA1953974142
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879100_14879101delinsGA , CM000673.2:g.14879100_14879101delinsGA GRCh38
NC_000011.9:g.14900646_14900647delinsGA , CM000673.1:g.14900646_14900647delinsGA GRCh37
NC_000011.8:g.14857222_14857223delinsGA NCBI36
NG_007936.1:g.18105_18106delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1330+13_1330+14delinsTC MANE Select ENSP00000334592.5:n.1330+13_1330+14delinsTC
ENST00000334636.9:c.1330+13_1330+14delinsTC ENSP00000334592.5:n.1330+13_1330+14delinsTC
ENST00000525015.1:c.160+13_160+14delinsTC
ENST00000530609.5:c.*926+13_*926+14delinsTC ENSP00000466060.1:n.*926+13_*926+14delinsTC
ENST00000532378.5:c.631+13_631+14delinsTC ENSP00000435484.1:n.631+13_631+14delinsTC
ENST00000532805.1:c.*438+13_*438+14delinsTC ENSP00000465097.1:n.*438+13_*438+14delinsTC
ENST00000534686.5:c.*690+13_*690+14delinsTC ENSP00000432087.2:n.*690+13_*690+14delinsTC
NM_024514.4:c.1330+13_1330+14delinsTC NP_078790.2:n.1330+13_1330+14delinsTC
XM_005252788.1:c.1186+13_1186+14delinsTC XP_005252845.1:n.1186+13_1186+14delinsTC
XM_005252789.2:c.1168+13_1168+14delinsTC XP_005252846.1:n.1168+13_1168+14delinsTC
XM_005252791.3:c.985+13_985+14delinsTC XP_005252848.1:n.985+13_985+14delinsTC
XM_006718142.2:c.1285+13_1285+14delinsTC XP_006718205.1:n.1285+13_1285+14delinsTC
XM_011519894.1:c.985+13_985+14delinsTC XP_011518196.1:n.985+13_985+14delinsTC
XM_011519895.1:c.985+13_985+14delinsTC XP_011518197.1:n.985+13_985+14delinsTC
XM_011519896.1:c.985+13_985+14delinsTC XP_011518198.1:n.985+13_985+14delinsTC
XM_011519897.1:c.985+13_985+14delinsTC XP_011518199.1:n.985+13_985+14delinsTC
XM_011519898.1:c.985+13_985+14delinsTC XP_011518200.1:n.985+13_985+14delinsTC
XR_242777.2:n.1147+13_1147+14delinsTC
XM_005252788.2:c.1186+13_1186+14delinsTC XP_005252845.1:n.1186+13_1186+14delinsTC
XM_005252789.3:c.1168+13_1168+14delinsTC XP_005252846.1:n.1168+13_1168+14delinsTC
XM_011519895.2:c.985+13_985+14delinsTC XP_011518197.1:n.985+13_985+14delinsTC
XM_011519898.3:c.985+13_985+14delinsTC XP_011518200.1:n.985+13_985+14delinsTC
XM_017017190.2:c.1165+13_1165+14delinsTC XP_016872679.1:n.1165+13_1165+14delinsTC
XM_017017191.2:c.985+13_985+14delinsTC XP_016872680.1:n.985+13_985+14delinsTC
XM_017017192.2:c.985+13_985+14delinsTC XP_016872681.1:n.985+13_985+14delinsTC
XM_017017193.2:c.985+13_985+14delinsTC XP_016872682.1:n.985+13_985+14delinsTC
XM_017017194.2:c.985+13_985+14delinsTC XP_016872683.1:n.985+13_985+14delinsTC
XM_024448345.1:c.1165+13_1165+14delinsTC XP_024304113.1:n.1165+13_1165+14delinsTC
XM_024448346.1:c.985+13_985+14delinsTC XP_024304114.1:n.985+13_985+14delinsTC
XM_024448347.1:c.985+13_985+14delinsTC XP_024304115.1:n.985+13_985+14delinsTC
XM_024448348.1:c.985+13_985+14delinsTC XP_024304116.1:n.985+13_985+14delinsTC
XR_002957123.1:n.1110+13_1110+14delinsTC
XR_002957124.1:n.1376+13_1376+14delinsTC
XR_242777.3:n.1147+13_1147+14delinsTC
NM_001377214.1:c.985+13_985+14delinsTC NP_001364143.1:n.985+13_985+14delinsTC
NM_001377215.1:c.985+13_985+14delinsTC NP_001364144.1:n.985+13_985+14delinsTC
NM_001377216.1:c.985+13_985+14delinsTC NP_001364145.1:n.985+13_985+14delinsTC
NM_001377217.1:c.1168+13_1168+14delinsTC NP_001364146.1:n.1168+13_1168+14delinsTC
NM_001377227.1:c.985+13_985+14delinsTC NP_001364156.1:n.985+13_985+14delinsTC
NM_024514.5:c.1330+13_1330+14delinsTC MANE Select NP_078790.2:n.1330+13_1330+14delinsTC
NM_001400558.1:c.985+13_985+14delinsTC NP_001387487.1:n.985+13_985+14delinsTC
NM_001400559.1:c.985+13_985+14delinsTC NP_001387488.1:n.985+13_985+14delinsTC
NM_001400560.1:c.985+13_985+14delinsTC NP_001387489.1:n.985+13_985+14delinsTC
NM_001400561.1:c.985+13_985+14delinsTC NP_001387490.1:n.985+13_985+14delinsTC
NM_001400562.1:c.631+13_631+14delinsTC NP_001387491.1:n.631+13_631+14delinsTC
NM_001400563.1:c.631+13_631+14delinsTC NP_001387492.1:n.631+13_631+14delinsTC
NM_001400564.1:c.631+13_631+14delinsTC NP_001387493.1:n.631+13_631+14delinsTC
NM_001400565.1:c.631+13_631+14delinsTC NP_001387494.1:n.631+13_631+14delinsTC
NM_001400566.1:c.352+13_352+14delinsTC NP_001387495.1:n.352+13_352+14delinsTC
NM_001400567.1:c.1186+13_1186+14delinsTC NP_001387496.1:n.1186+13_1186+14delinsTC
NM_001400568.1:c.1285+13_1285+14delinsTC NP_001387497.1:n.1285+13_1285+14delinsTC
NR_174512.1:n.1197+13_1197+14delinsTC
NR_174513.1:n.1046+13_1046+14delinsTC
NR_174514.1:n.1421+13_1421+14delinsTC
NR_174515.1:n.1830+13_1830+14delinsTC
NR_174516.1:n.1008+13_1008+14delinsTC
NR_174517.1:n.544+13_544+14delinsTC
NR_174518.1:n.1641+13_1641+14delinsTC
NR_174519.1:n.1388+13_1388+14delinsTC
NR_174520.1:n.1179+13_1179+14delinsTC
NR_174521.1:n.1679+13_1679+14delinsTC
NR_174522.1:n.1177+13_1177+14delinsTC
NR_174523.1:n.1588+13_1588+14delinsTC