Canonical Allele Identifier: CA2790528554

Gene: CYP2R1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879325_14879326del , CM000673.2:g.14879325_14879326del	GRCh38
NC_000011.9:g.14900871_14900872del , CM000673.1:g.14900871_14900872del	GRCh37
NC_000011.8:g.14857447_14857448del	NCBI36
NG_007936.1:g.17883_17884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1121_1122del MANE Select	ENSP00000334592.5:p.Ile374SerfsTer11
ENST00000334636.9:c.1121_1122del	ENSP00000334592.5:p.Ile374SerfsTer11
ENST00000525015.1:c.67-116_67-115del
ENST00000530609.5:c.*717_*718del	ENSP00000466060.1:n.*717_*718del
ENST00000532378.5:c.422_423del	ENSP00000435484.1:p.Ile141SerfsTer11
ENST00000532805.1:c.*353-124_*353-123del	ENSP00000465097.1:n.*353-124_*353-123del
ENST00000534686.5:c.*597-116_*597-115del	ENSP00000432087.2:n.*597-116_*597-115del
NM_024514.4:c.1121_1122del	NP_078790.2:p.Ile374SerfsTer11
XM_005252788.1:c.977_978del	XP_005252845.1:p.Ile326SerfsTer11
XM_005252789.2:c.959_960del	XP_005252846.1:p.Ile320SerfsTer11
XM_005252791.3:c.776_777del	XP_005252848.1:p.Ile259SerfsTer11
XM_006718142.2:c.1076_1077del	XP_006718205.1:p.Ile359SerfsTer11
XM_011519894.1:c.776_777del	XP_011518196.1:p.Ile259SerfsTer11
XM_011519895.1:c.776_777del	XP_011518197.1:p.Ile259SerfsTer11
XM_011519896.1:c.776_777del	XP_011518198.1:p.Ile259SerfsTer11
XM_011519897.1:c.776_777del	XP_011518199.1:p.Ile259SerfsTer11
XM_011519898.1:c.776_777del	XP_011518200.1:p.Ile259SerfsTer11
XR_242777.2:n.1054-116_1054-115del
XM_005252788.2:c.977_978del	XP_005252845.1:p.Ile326SerfsTer11
XM_005252789.3:c.959_960del	XP_005252846.1:p.Ile320SerfsTer11
XM_011519895.2:c.776_777del	XP_011518197.1:p.Ile259SerfsTer11
XM_011519898.3:c.776_777del	XP_011518200.1:p.Ile259SerfsTer11
XM_017017190.2:c.956_957del	XP_016872679.1:p.Ile319SerfsTer11
XM_017017191.2:c.776_777del	XP_016872680.1:p.Ile259SerfsTer11
XM_017017192.2:c.776_777del	XP_016872681.1:p.Ile259SerfsTer11
XM_017017193.2:c.776_777del	XP_016872682.1:p.Ile259SerfsTer11
XM_017017194.2:c.776_777del	XP_016872683.1:p.Ile259SerfsTer11
XM_024448345.1:c.956_957del	XP_024304113.1:p.Ile319SerfsTer11
XM_024448346.1:c.776_777del	XP_024304114.1:p.Ile259SerfsTer11
XM_024448347.1:c.776_777del	XP_024304115.1:p.Ile259SerfsTer11
XM_024448348.1:c.776_777del	XP_024304116.1:p.Ile259SerfsTer11
XR_002957123.1:n.1017-116_1017-115del
XR_002957124.1:n.1283-116_1283-115del
XR_242777.3:n.1054-116_1054-115del
NM_001377214.1:c.776_777del	NP_001364143.1:p.Ile259SerfsTer11
NM_001377215.1:c.776_777del	NP_001364144.1:p.Ile259SerfsTer11
NM_001377216.1:c.776_777del	NP_001364145.1:p.Ile259SerfsTer11
NM_001377217.1:c.959_960del	NP_001364146.1:p.Ile320SerfsTer11
NM_001377227.1:c.776_777del	NP_001364156.1:p.Ile259SerfsTer11
NM_024514.5:c.1121_1122del MANE Select	NP_078790.2:p.Ile374SerfsTer11
NM_001400558.1:c.776_777del	NP_001387487.1:p.Ile259SerfsTer11
NM_001400559.1:c.776_777del	NP_001387488.1:p.Ile259SerfsTer11
NM_001400560.1:c.776_777del	NP_001387489.1:p.Ile259SerfsTer11
NM_001400561.1:c.776_777del	NP_001387490.1:p.Ile259SerfsTer11
NM_001400562.1:c.422_423del	NP_001387491.1:p.Ile141SerfsTer11
NM_001400563.1:c.422_423del	NP_001387492.1:p.Ile141SerfsTer11
NM_001400564.1:c.422_423del	NP_001387493.1:p.Ile141SerfsTer11
NM_001400565.1:c.422_423del	NP_001387494.1:p.Ile141SerfsTer11
NM_001400566.1:c.143_144del	NP_001387495.1:p.Ile48SerfsTer11
NM_001400567.1:c.977_978del	NP_001387496.1:p.Ile326SerfsTer11
NM_001400568.1:c.1076_1077del	NP_001387497.1:p.Ile359SerfsTer11
NR_174512.1:n.1104-116_1104-115del
NR_174513.1:n.953-116_953-115del
NR_174514.1:n.1328-116_1328-115del
NR_174515.1:n.1737-116_1737-115del
NR_174516.1:n.915-116_915-115del
NR_174517.1:n.451-116_451-115del
NR_174518.1:n.1548-116_1548-115del
NR_174519.1:n.1295-116_1295-115del
NR_174520.1:n.1086-116_1086-115del
NR_174521.1:n.1586-116_1586-115del
NR_174522.1:n.1084-116_1084-115del
NR_174523.1:n.1495-116_1495-115del