Canonical Allele Identifier: CA2504765280

Gene: CYP2R1

Linked Data

• gnomAD v4: 11-14879119-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879124del , CM000673.2:g.14879124del	GRCh38
NC_000011.9:g.14900670del , CM000673.1:g.14900670del	GRCh37
NC_000011.8:g.14857246del	NCBI36
NG_007936.1:g.18086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1324del MANE Select	ENSP00000334592.5:p.Ser442ProfsTer2
ENST00000334636.9:c.1324del	ENSP00000334592.5:p.Ser442ProfsTer2
ENST00000525015.1:c.154del
ENST00000530609.5:c.*920del	ENSP00000466060.1:n.*920del
ENST00000532378.5:c.625del	ENSP00000435484.1:p.Ser209ProfsTer2
ENST00000532805.1:c.*432del	ENSP00000465097.1:n.*432del
ENST00000534686.5:c.*684del	ENSP00000432087.2:n.*684del
NM_024514.4:c.1324del	NP_078790.2:p.Ser442ProfsTer2
XM_005252788.1:c.1180del	XP_005252845.1:p.Ser394ProfsTer2
XM_005252789.2:c.1162del	XP_005252846.1:p.Ser388ProfsTer2
XM_005252791.3:c.979del	XP_005252848.1:p.Ser327ProfsTer2
XM_006718142.2:c.1279del	XP_006718205.1:p.Ser427ProfsTer2
XM_011519894.1:c.979del	XP_011518196.1:p.Ser327ProfsTer2
XM_011519895.1:c.979del	XP_011518197.1:p.Ser327ProfsTer2
XM_011519896.1:c.979del	XP_011518198.1:p.Ser327ProfsTer2
XM_011519897.1:c.979del	XP_011518199.1:p.Ser327ProfsTer2
XM_011519898.1:c.979del	XP_011518200.1:p.Ser327ProfsTer2
XR_242777.2:n.1141del
XM_005252788.2:c.1180del	XP_005252845.1:p.Ser394ProfsTer2
XM_005252789.3:c.1162del	XP_005252846.1:p.Ser388ProfsTer2
XM_011519895.2:c.979del	XP_011518197.1:p.Ser327ProfsTer2
XM_011519898.3:c.979del	XP_011518200.1:p.Ser327ProfsTer2
XM_017017190.2:c.1159del	XP_016872679.1:p.Ser387ProfsTer2
XM_017017191.2:c.979del	XP_016872680.1:p.Ser327ProfsTer2
XM_017017192.2:c.979del	XP_016872681.1:p.Ser327ProfsTer2
XM_017017193.2:c.979del	XP_016872682.1:p.Ser327ProfsTer2
XM_017017194.2:c.979del	XP_016872683.1:p.Ser327ProfsTer2
XM_024448345.1:c.1159del	XP_024304113.1:p.Ser387ProfsTer2
XM_024448346.1:c.979del	XP_024304114.1:p.Ser327ProfsTer2
XM_024448347.1:c.979del	XP_024304115.1:p.Ser327ProfsTer2
XM_024448348.1:c.979del	XP_024304116.1:p.Ser327ProfsTer2
XR_002957123.1:n.1104del
XR_002957124.1:n.1370del
XR_242777.3:n.1141del
NM_001377214.1:c.979del	NP_001364143.1:p.Ser327ProfsTer2
NM_001377215.1:c.979del	NP_001364144.1:p.Ser327ProfsTer2
NM_001377216.1:c.979del	NP_001364145.1:p.Ser327ProfsTer2
NM_001377217.1:c.1162del	NP_001364146.1:p.Ser388ProfsTer2
NM_001377227.1:c.979del	NP_001364156.1:p.Ser327ProfsTer2
NM_024514.5:c.1324del MANE Select	NP_078790.2:p.Ser442ProfsTer2
NM_001400558.1:c.979del	NP_001387487.1:p.Ser327ProfsTer2
NM_001400559.1:c.979del	NP_001387488.1:p.Ser327ProfsTer2
NM_001400560.1:c.979del	NP_001387489.1:p.Ser327ProfsTer2
NM_001400561.1:c.979del	NP_001387490.1:p.Ser327ProfsTer2
NM_001400562.1:c.625del	NP_001387491.1:p.Ser209ProfsTer2
NM_001400563.1:c.625del	NP_001387492.1:p.Ser209ProfsTer2
NM_001400564.1:c.625del	NP_001387493.1:p.Ser209ProfsTer2
NM_001400565.1:c.625del	NP_001387494.1:p.Ser209ProfsTer2
NM_001400566.1:c.346del	NP_001387495.1:p.Ser116ProfsTer2
NM_001400567.1:c.1180del	NP_001387496.1:p.Ser394ProfsTer2
NM_001400568.1:c.1279del	NP_001387497.1:p.Ser427ProfsTer2
NR_174512.1:n.1191del
NR_174513.1:n.1040del
NR_174514.1:n.1415del
NR_174515.1:n.1824del
NR_174516.1:n.1002del
NR_174517.1:n.538del
NR_174518.1:n.1635del
NR_174519.1:n.1382del
NR_174520.1:n.1173del
NR_174521.1:n.1673del
NR_174522.1:n.1171del
NR_174523.1:n.1582del