Canonical Allele Identifier: CA1953974136
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879093_14879094delinsGC , CM000673.2:g.14879093_14879094delinsGC GRCh38
NC_000011.9:g.14900639_14900640delinsGC , CM000673.1:g.14900639_14900640delinsGC GRCh37
NC_000011.8:g.14857215_14857216delinsGC NCBI36
NG_007936.1:g.18112_18113delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1330+20_1330+21delinsGC MANE Select ENSP00000334592.5:n.1330+20_1330+21delinsGC
ENST00000334636.9:c.1330+20_1330+21delinsGC ENSP00000334592.5:n.1330+20_1330+21delinsGC
ENST00000525015.1:c.160+20_160+21delinsGC
ENST00000530609.5:c.*926+20_*926+21delinsGC ENSP00000466060.1:n.*926+20_*926+21delinsGC
ENST00000532378.5:c.631+20_631+21delinsGC ENSP00000435484.1:n.631+20_631+21delinsGC
ENST00000532805.1:c.*438+20_*438+21delinsGC ENSP00000465097.1:n.*438+20_*438+21delinsGC
ENST00000534686.5:c.*690+20_*690+21delinsGC ENSP00000432087.2:n.*690+20_*690+21delinsGC
NM_024514.4:c.1330+20_1330+21delinsGC NP_078790.2:n.1330+20_1330+21delinsGC
XM_005252788.1:c.1186+20_1186+21delinsGC XP_005252845.1:n.1186+20_1186+21delinsGC
XM_005252789.2:c.1168+20_1168+21delinsGC XP_005252846.1:n.1168+20_1168+21delinsGC
XM_005252791.3:c.985+20_985+21delinsGC XP_005252848.1:n.985+20_985+21delinsGC
XM_006718142.2:c.1285+20_1285+21delinsGC XP_006718205.1:n.1285+20_1285+21delinsGC
XM_011519894.1:c.985+20_985+21delinsGC XP_011518196.1:n.985+20_985+21delinsGC
XM_011519895.1:c.985+20_985+21delinsGC XP_011518197.1:n.985+20_985+21delinsGC
XM_011519896.1:c.985+20_985+21delinsGC XP_011518198.1:n.985+20_985+21delinsGC
XM_011519897.1:c.985+20_985+21delinsGC XP_011518199.1:n.985+20_985+21delinsGC
XM_011519898.1:c.985+20_985+21delinsGC XP_011518200.1:n.985+20_985+21delinsGC
XR_242777.2:n.1147+20_1147+21delinsGC
XM_005252788.2:c.1186+20_1186+21delinsGC XP_005252845.1:n.1186+20_1186+21delinsGC
XM_005252789.3:c.1168+20_1168+21delinsGC XP_005252846.1:n.1168+20_1168+21delinsGC
XM_011519895.2:c.985+20_985+21delinsGC XP_011518197.1:n.985+20_985+21delinsGC
XM_011519898.3:c.985+20_985+21delinsGC XP_011518200.1:n.985+20_985+21delinsGC
XM_017017190.2:c.1165+20_1165+21delinsGC XP_016872679.1:n.1165+20_1165+21delinsGC
XM_017017191.2:c.985+20_985+21delinsGC XP_016872680.1:n.985+20_985+21delinsGC
XM_017017192.2:c.985+20_985+21delinsGC XP_016872681.1:n.985+20_985+21delinsGC
XM_017017193.2:c.985+20_985+21delinsGC XP_016872682.1:n.985+20_985+21delinsGC
XM_017017194.2:c.985+20_985+21delinsGC XP_016872683.1:n.985+20_985+21delinsGC
XM_024448345.1:c.1165+20_1165+21delinsGC XP_024304113.1:n.1165+20_1165+21delinsGC
XM_024448346.1:c.985+20_985+21delinsGC XP_024304114.1:n.985+20_985+21delinsGC
XM_024448347.1:c.985+20_985+21delinsGC XP_024304115.1:n.985+20_985+21delinsGC
XM_024448348.1:c.985+20_985+21delinsGC XP_024304116.1:n.985+20_985+21delinsGC
XR_002957123.1:n.1110+20_1110+21delinsGC
XR_002957124.1:n.1376+20_1376+21delinsGC
XR_242777.3:n.1147+20_1147+21delinsGC
NM_001377214.1:c.985+20_985+21delinsGC NP_001364143.1:n.985+20_985+21delinsGC
NM_001377215.1:c.985+20_985+21delinsGC NP_001364144.1:n.985+20_985+21delinsGC
NM_001377216.1:c.985+20_985+21delinsGC NP_001364145.1:n.985+20_985+21delinsGC
NM_001377217.1:c.1168+20_1168+21delinsGC NP_001364146.1:n.1168+20_1168+21delinsGC
NM_001377227.1:c.985+20_985+21delinsGC NP_001364156.1:n.985+20_985+21delinsGC
NM_024514.5:c.1330+20_1330+21delinsGC MANE Select NP_078790.2:n.1330+20_1330+21delinsGC
NM_001400558.1:c.985+20_985+21delinsGC NP_001387487.1:n.985+20_985+21delinsGC
NM_001400559.1:c.985+20_985+21delinsGC NP_001387488.1:n.985+20_985+21delinsGC
NM_001400560.1:c.985+20_985+21delinsGC NP_001387489.1:n.985+20_985+21delinsGC
NM_001400561.1:c.985+20_985+21delinsGC NP_001387490.1:n.985+20_985+21delinsGC
NM_001400562.1:c.631+20_631+21delinsGC NP_001387491.1:n.631+20_631+21delinsGC
NM_001400563.1:c.631+20_631+21delinsGC NP_001387492.1:n.631+20_631+21delinsGC
NM_001400564.1:c.631+20_631+21delinsGC NP_001387493.1:n.631+20_631+21delinsGC
NM_001400565.1:c.631+20_631+21delinsGC NP_001387494.1:n.631+20_631+21delinsGC
NM_001400566.1:c.352+20_352+21delinsGC NP_001387495.1:n.352+20_352+21delinsGC
NM_001400567.1:c.1186+20_1186+21delinsGC NP_001387496.1:n.1186+20_1186+21delinsGC
NM_001400568.1:c.1285+20_1285+21delinsGC NP_001387497.1:n.1285+20_1285+21delinsGC
NR_174512.1:n.1197+20_1197+21delinsGC
NR_174513.1:n.1046+20_1046+21delinsGC
NR_174514.1:n.1421+20_1421+21delinsGC
NR_174515.1:n.1830+20_1830+21delinsGC
NR_174516.1:n.1008+20_1008+21delinsGC
NR_174517.1:n.544+20_544+21delinsGC
NR_174518.1:n.1641+20_1641+21delinsGC
NR_174519.1:n.1388+20_1388+21delinsGC
NR_174520.1:n.1179+20_1179+21delinsGC
NR_174521.1:n.1679+20_1679+21delinsGC
NR_174522.1:n.1177+20_1177+21delinsGC
NR_174523.1:n.1588+20_1588+21delinsGC