Canonical Allele Identifier: CA1953974262
Gene: CYP2R1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.14879418_14879423delinsTAAATC , CM000673.2:g.14879418_14879423delinsTAAATC GRCh38
NC_000011.9:g.14900964_14900969delinsTAAATC , CM000673.1:g.14900964_14900969delinsTAAATC GRCh37
NC_000011.8:g.14857540_14857545delinsTAAATC NCBI36
NG_007936.1:g.17783_17788delinsGATTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000334636.10:c.1021_1026delinsGATTTA MANE Select ENSP00000334592.5:p.Asp341=
ENST00000334636.9:c.1021_1026delinsGATTTA ENSP00000334592.5:p.Asp341=
ENST00000525015.1:c.67-216_67-211delinsGATTTA
ENST00000530609.5:c.*617_*622delinsGATTTA ENSP00000466060.1:n.*617_*622delinsGATTTA
ENST00000532378.5:c.322_327delinsGATTTA ENSP00000435484.1:p.Asp108=
ENST00000532805.1:c.*353-224_*353-219delinsGATTTA ENSP00000465097.1:n.*353-224_*353-219delinsGATTTA
ENST00000534686.5:c.*597-216_*597-211delinsGATTTA ENSP00000432087.2:n.*597-216_*597-211delinsGATTTA
NM_024514.4:c.1021_1026delinsGATTTA NP_078790.2:p.Asp341=
XM_005252788.1:c.877_882delinsGATTTA XP_005252845.1:p.Asp293=
XM_005252789.2:c.859_864delinsGATTTA XP_005252846.1:p.Asp287=
XM_005252791.3:c.676_681delinsGATTTA XP_005252848.1:p.Asp226=
XM_006718142.2:c.976_981delinsGATTTA XP_006718205.1:p.Asp326=
XM_011519894.1:c.676_681delinsGATTTA XP_011518196.1:p.Asp226=
XM_011519895.1:c.676_681delinsGATTTA XP_011518197.1:p.Asp226=
XM_011519896.1:c.676_681delinsGATTTA XP_011518198.1:p.Asp226=
XM_011519897.1:c.676_681delinsGATTTA XP_011518199.1:p.Asp226=
XM_011519898.1:c.676_681delinsGATTTA XP_011518200.1:p.Asp226=
XR_242777.2:n.1054-216_1054-211delinsGATTTA
XM_005252788.2:c.877_882delinsGATTTA XP_005252845.1:p.Asp293=
XM_005252789.3:c.859_864delinsGATTTA XP_005252846.1:p.Asp287=
XM_011519895.2:c.676_681delinsGATTTA XP_011518197.1:p.Asp226=
XM_011519898.3:c.676_681delinsGATTTA XP_011518200.1:p.Asp226=
XM_017017190.2:c.856_861delinsGATTTA XP_016872679.1:p.Asp286=
XM_017017191.2:c.676_681delinsGATTTA XP_016872680.1:p.Asp226=
XM_017017192.2:c.676_681delinsGATTTA XP_016872681.1:p.Asp226=
XM_017017193.2:c.676_681delinsGATTTA XP_016872682.1:p.Asp226=
XM_017017194.2:c.676_681delinsGATTTA XP_016872683.1:p.Asp226=
XM_024448345.1:c.856_861delinsGATTTA XP_024304113.1:p.Asp286=
XM_024448346.1:c.676_681delinsGATTTA XP_024304114.1:p.Asp226=
XM_024448347.1:c.676_681delinsGATTTA XP_024304115.1:p.Asp226=
XM_024448348.1:c.676_681delinsGATTTA XP_024304116.1:p.Asp226=
XR_002957123.1:n.1017-216_1017-211delinsGATTTA
XR_002957124.1:n.1283-216_1283-211delinsGATTTA
XR_242777.3:n.1054-216_1054-211delinsGATTTA
NM_001377214.1:c.676_681delinsGATTTA NP_001364143.1:p.Asp226=
NM_001377215.1:c.676_681delinsGATTTA NP_001364144.1:p.Asp226=
NM_001377216.1:c.676_681delinsGATTTA NP_001364145.1:p.Asp226=
NM_001377217.1:c.859_864delinsGATTTA NP_001364146.1:p.Asp287=
NM_001377227.1:c.676_681delinsGATTTA NP_001364156.1:p.Asp226=
NM_024514.5:c.1021_1026delinsGATTTA MANE Select NP_078790.2:p.Asp341=
NM_001400558.1:c.676_681delinsGATTTA NP_001387487.1:p.Asp226=
NM_001400559.1:c.676_681delinsGATTTA NP_001387488.1:p.Asp226=
NM_001400560.1:c.676_681delinsGATTTA NP_001387489.1:p.Asp226=
NM_001400561.1:c.676_681delinsGATTTA NP_001387490.1:p.Asp226=
NM_001400562.1:c.322_327delinsGATTTA NP_001387491.1:p.Asp108=
NM_001400563.1:c.322_327delinsGATTTA NP_001387492.1:p.Asp108=
NM_001400564.1:c.322_327delinsGATTTA NP_001387493.1:p.Asp108=
NM_001400565.1:c.322_327delinsGATTTA NP_001387494.1:p.Asp108=
NM_001400566.1:c.43_48delinsGATTTA NP_001387495.1:p.Asp15=
NM_001400567.1:c.877_882delinsGATTTA NP_001387496.1:p.Asp293=
NM_001400568.1:c.976_981delinsGATTTA NP_001387497.1:p.Asp326=
NR_174512.1:n.1104-216_1104-211delinsGATTTA
NR_174513.1:n.953-216_953-211delinsGATTTA
NR_174514.1:n.1328-216_1328-211delinsGATTTA
NR_174515.1:n.1737-216_1737-211delinsGATTTA
NR_174516.1:n.915-216_915-211delinsGATTTA
NR_174517.1:n.451-216_451-211delinsGATTTA
NR_174518.1:n.1548-216_1548-211delinsGATTTA
NR_174519.1:n.1295-216_1295-211delinsGATTTA
NR_174520.1:n.1086-216_1086-211delinsGATTTA
NR_174521.1:n.1586-216_1586-211delinsGATTTA
NR_174522.1:n.1084-216_1084-211delinsGATTTA
NR_174523.1:n.1495-216_1495-211delinsGATTTA