Canonical Allele Identifier: CA1953974144
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879103_14879104delinsAG , CM000673.2:g.14879103_14879104delinsAG GRCh38
NC_000011.9:g.14900649_14900650delinsAG , CM000673.1:g.14900649_14900650delinsAG GRCh37
NC_000011.8:g.14857225_14857226delinsAG NCBI36
NG_007936.1:g.18102_18103delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1330+10_1330+11delinsCT MANE Select ENSP00000334592.5:n.1330+10_1330+11delinsCT
ENST00000334636.9:c.1330+10_1330+11delinsCT ENSP00000334592.5:n.1330+10_1330+11delinsCT
ENST00000525015.1:c.160+10_160+11delinsCT
ENST00000530609.5:c.*926+10_*926+11delinsCT ENSP00000466060.1:n.*926+10_*926+11delinsCT
ENST00000532378.5:c.631+10_631+11delinsCT ENSP00000435484.1:n.631+10_631+11delinsCT
ENST00000532805.1:c.*438+10_*438+11delinsCT ENSP00000465097.1:n.*438+10_*438+11delinsCT
ENST00000534686.5:c.*690+10_*690+11delinsCT ENSP00000432087.2:n.*690+10_*690+11delinsCT
NM_024514.4:c.1330+10_1330+11delinsCT NP_078790.2:n.1330+10_1330+11delinsCT
XM_005252788.1:c.1186+10_1186+11delinsCT XP_005252845.1:n.1186+10_1186+11delinsCT
XM_005252789.2:c.1168+10_1168+11delinsCT XP_005252846.1:n.1168+10_1168+11delinsCT
XM_005252791.3:c.985+10_985+11delinsCT XP_005252848.1:n.985+10_985+11delinsCT
XM_006718142.2:c.1285+10_1285+11delinsCT XP_006718205.1:n.1285+10_1285+11delinsCT
XM_011519894.1:c.985+10_985+11delinsCT XP_011518196.1:n.985+10_985+11delinsCT
XM_011519895.1:c.985+10_985+11delinsCT XP_011518197.1:n.985+10_985+11delinsCT
XM_011519896.1:c.985+10_985+11delinsCT XP_011518198.1:n.985+10_985+11delinsCT
XM_011519897.1:c.985+10_985+11delinsCT XP_011518199.1:n.985+10_985+11delinsCT
XM_011519898.1:c.985+10_985+11delinsCT XP_011518200.1:n.985+10_985+11delinsCT
XR_242777.2:n.1147+10_1147+11delinsCT
XM_005252788.2:c.1186+10_1186+11delinsCT XP_005252845.1:n.1186+10_1186+11delinsCT
XM_005252789.3:c.1168+10_1168+11delinsCT XP_005252846.1:n.1168+10_1168+11delinsCT
XM_011519895.2:c.985+10_985+11delinsCT XP_011518197.1:n.985+10_985+11delinsCT
XM_011519898.3:c.985+10_985+11delinsCT XP_011518200.1:n.985+10_985+11delinsCT
XM_017017190.2:c.1165+10_1165+11delinsCT XP_016872679.1:n.1165+10_1165+11delinsCT
XM_017017191.2:c.985+10_985+11delinsCT XP_016872680.1:n.985+10_985+11delinsCT
XM_017017192.2:c.985+10_985+11delinsCT XP_016872681.1:n.985+10_985+11delinsCT
XM_017017193.2:c.985+10_985+11delinsCT XP_016872682.1:n.985+10_985+11delinsCT
XM_017017194.2:c.985+10_985+11delinsCT XP_016872683.1:n.985+10_985+11delinsCT
XM_024448345.1:c.1165+10_1165+11delinsCT XP_024304113.1:n.1165+10_1165+11delinsCT
XM_024448346.1:c.985+10_985+11delinsCT XP_024304114.1:n.985+10_985+11delinsCT
XM_024448347.1:c.985+10_985+11delinsCT XP_024304115.1:n.985+10_985+11delinsCT
XM_024448348.1:c.985+10_985+11delinsCT XP_024304116.1:n.985+10_985+11delinsCT
XR_002957123.1:n.1110+10_1110+11delinsCT
XR_002957124.1:n.1376+10_1376+11delinsCT
XR_242777.3:n.1147+10_1147+11delinsCT
NM_001377214.1:c.985+10_985+11delinsCT NP_001364143.1:n.985+10_985+11delinsCT
NM_001377215.1:c.985+10_985+11delinsCT NP_001364144.1:n.985+10_985+11delinsCT
NM_001377216.1:c.985+10_985+11delinsCT NP_001364145.1:n.985+10_985+11delinsCT
NM_001377217.1:c.1168+10_1168+11delinsCT NP_001364146.1:n.1168+10_1168+11delinsCT
NM_001377227.1:c.985+10_985+11delinsCT NP_001364156.1:n.985+10_985+11delinsCT
NM_024514.5:c.1330+10_1330+11delinsCT MANE Select NP_078790.2:n.1330+10_1330+11delinsCT
NM_001400558.1:c.985+10_985+11delinsCT NP_001387487.1:n.985+10_985+11delinsCT
NM_001400559.1:c.985+10_985+11delinsCT NP_001387488.1:n.985+10_985+11delinsCT
NM_001400560.1:c.985+10_985+11delinsCT NP_001387489.1:n.985+10_985+11delinsCT
NM_001400561.1:c.985+10_985+11delinsCT NP_001387490.1:n.985+10_985+11delinsCT
NM_001400562.1:c.631+10_631+11delinsCT NP_001387491.1:n.631+10_631+11delinsCT
NM_001400563.1:c.631+10_631+11delinsCT NP_001387492.1:n.631+10_631+11delinsCT
NM_001400564.1:c.631+10_631+11delinsCT NP_001387493.1:n.631+10_631+11delinsCT
NM_001400565.1:c.631+10_631+11delinsCT NP_001387494.1:n.631+10_631+11delinsCT
NM_001400566.1:c.352+10_352+11delinsCT NP_001387495.1:n.352+10_352+11delinsCT
NM_001400567.1:c.1186+10_1186+11delinsCT NP_001387496.1:n.1186+10_1186+11delinsCT
NM_001400568.1:c.1285+10_1285+11delinsCT NP_001387497.1:n.1285+10_1285+11delinsCT
NR_174512.1:n.1197+10_1197+11delinsCT
NR_174513.1:n.1046+10_1046+11delinsCT
NR_174514.1:n.1421+10_1421+11delinsCT
NR_174515.1:n.1830+10_1830+11delinsCT
NR_174516.1:n.1008+10_1008+11delinsCT
NR_174517.1:n.544+10_544+11delinsCT
NR_174518.1:n.1641+10_1641+11delinsCT
NR_174519.1:n.1388+10_1388+11delinsCT
NR_174520.1:n.1179+10_1179+11delinsCT
NR_174521.1:n.1679+10_1679+11delinsCT
NR_174522.1:n.1177+10_1177+11delinsCT
NR_174523.1:n.1588+10_1588+11delinsCT