Canonical Allele Identifier: CA2612590159

Gene: CYP2R1

Linked Data

• gnomAD v4: 11-14879144-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879146del , CM000673.2:g.14879146del	GRCh38
NC_000011.9:g.14900692del , CM000673.1:g.14900692del	GRCh37
NC_000011.8:g.14857268del	NCBI36
NG_007936.1:g.18061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1299del MANE Select	ENSP00000334592.5:p.Lys434ArgfsTer10
ENST00000334636.9:c.1299del	ENSP00000334592.5:p.Lys434ArgfsTer10
ENST00000525015.1:c.129del
ENST00000530609.5:c.*895del	ENSP00000466060.1:n.*895del
ENST00000532378.5:c.600del	ENSP00000435484.1:p.Lys201ArgfsTer10
ENST00000532805.1:c.*407del	ENSP00000465097.1:n.*407del
ENST00000534686.5:c.*659del	ENSP00000432087.2:n.*659del
NM_024514.4:c.1299del	NP_078790.2:p.Lys434ArgfsTer10
XM_005252788.1:c.1155del	XP_005252845.1:p.Lys386ArgfsTer10
XM_005252789.2:c.1137del	XP_005252846.1:p.Lys380ArgfsTer10
XM_005252791.3:c.954del	XP_005252848.1:p.Lys319ArgfsTer10
XM_006718142.2:c.1254del	XP_006718205.1:p.Lys419ArgfsTer10
XM_011519894.1:c.954del	XP_011518196.1:p.Lys319ArgfsTer10
XM_011519895.1:c.954del	XP_011518197.1:p.Lys319ArgfsTer10
XM_011519896.1:c.954del	XP_011518198.1:p.Lys319ArgfsTer10
XM_011519897.1:c.954del	XP_011518199.1:p.Lys319ArgfsTer10
XM_011519898.1:c.954del	XP_011518200.1:p.Lys319ArgfsTer10
XR_242777.2:n.1116del
XM_005252788.2:c.1155del	XP_005252845.1:p.Lys386ArgfsTer10
XM_005252789.3:c.1137del	XP_005252846.1:p.Lys380ArgfsTer10
XM_011519895.2:c.954del	XP_011518197.1:p.Lys319ArgfsTer10
XM_011519898.3:c.954del	XP_011518200.1:p.Lys319ArgfsTer10
XM_017017190.2:c.1134del	XP_016872679.1:p.Lys379ArgfsTer10
XM_017017191.2:c.954del	XP_016872680.1:p.Lys319ArgfsTer10
XM_017017192.2:c.954del	XP_016872681.1:p.Lys319ArgfsTer10
XM_017017193.2:c.954del	XP_016872682.1:p.Lys319ArgfsTer10
XM_017017194.2:c.954del	XP_016872683.1:p.Lys319ArgfsTer10
XM_024448345.1:c.1134del	XP_024304113.1:p.Lys379ArgfsTer10
XM_024448346.1:c.954del	XP_024304114.1:p.Lys319ArgfsTer10
XM_024448347.1:c.954del	XP_024304115.1:p.Lys319ArgfsTer10
XM_024448348.1:c.954del	XP_024304116.1:p.Lys319ArgfsTer10
XR_002957123.1:n.1079del
XR_002957124.1:n.1345del
XR_242777.3:n.1116del
NM_001377214.1:c.954del	NP_001364143.1:p.Lys319ArgfsTer10
NM_001377215.1:c.954del	NP_001364144.1:p.Lys319ArgfsTer10
NM_001377216.1:c.954del	NP_001364145.1:p.Lys319ArgfsTer10
NM_001377217.1:c.1137del	NP_001364146.1:p.Lys380ArgfsTer10
NM_001377227.1:c.954del	NP_001364156.1:p.Lys319ArgfsTer10
NM_024514.5:c.1299del MANE Select	NP_078790.2:p.Lys434ArgfsTer10
NM_001400558.1:c.954del	NP_001387487.1:p.Lys319ArgfsTer10
NM_001400559.1:c.954del	NP_001387488.1:p.Lys319ArgfsTer10
NM_001400560.1:c.954del	NP_001387489.1:p.Lys319ArgfsTer10
NM_001400561.1:c.954del	NP_001387490.1:p.Lys319ArgfsTer10
NM_001400562.1:c.600del	NP_001387491.1:p.Lys201ArgfsTer10
NM_001400563.1:c.600del	NP_001387492.1:p.Lys201ArgfsTer10
NM_001400564.1:c.600del	NP_001387493.1:p.Lys201ArgfsTer10
NM_001400565.1:c.600del	NP_001387494.1:p.Lys201ArgfsTer10
NM_001400566.1:c.321del	NP_001387495.1:p.Lys108ArgfsTer10
NM_001400567.1:c.1155del	NP_001387496.1:p.Lys386ArgfsTer10
NM_001400568.1:c.1254del	NP_001387497.1:p.Lys419ArgfsTer10
NR_174512.1:n.1166del
NR_174513.1:n.1015del
NR_174514.1:n.1390del
NR_174515.1:n.1799del
NR_174516.1:n.977del
NR_174517.1:n.513del
NR_174518.1:n.1610del
NR_174519.1:n.1357del
NR_174520.1:n.1148del
NR_174521.1:n.1648del
NR_174522.1:n.1146del
NR_174523.1:n.1557del