Canonical Allele Identifier: CA2612590306

Gene: CYP2R1

Linked Data

• gnomAD v4: 11-14879465-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879466_14879468del , CM000673.2:g.14879466_14879468del	GRCh38
NC_000011.9:g.14901012_14901014del , CM000673.1:g.14901012_14901014del	GRCh37
NC_000011.8:g.14857588_14857590del	NCBI36
NG_007936.1:g.17738_17740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1001-25_1001-23del MANE Select	ENSP00000334592.5:n.1001-25_1001-23del
ENST00000334636.9:c.1001-25_1001-23del	ENSP00000334592.5:n.1001-25_1001-23del
ENST00000525015.1:c.67-261_67-259del
ENST00000530609.5:c.*597-25_*597-23del	ENSP00000466060.1:n.*597-25_*597-23del
ENST00000532378.5:c.302-25_302-23del	ENSP00000435484.1:n.302-25_302-23del
ENST00000532805.1:c.*353-269_*353-267del	ENSP00000465097.1:n.*353-269_*353-267del
ENST00000534686.5:c.*597-261_*597-259del	ENSP00000432087.2:n.*597-261_*597-259del
NM_024514.4:c.1001-25_1001-23del	NP_078790.2:n.1001-25_1001-23del
XM_005252788.1:c.857-25_857-23del	XP_005252845.1:n.857-25_857-23del
XM_005252789.2:c.839-25_839-23del	XP_005252846.1:n.839-25_839-23del
XM_005252791.3:c.656-25_656-23del	XP_005252848.1:n.656-25_656-23del
XM_006718142.2:c.956-25_956-23del	XP_006718205.1:n.956-25_956-23del
XM_011519894.1:c.656-25_656-23del	XP_011518196.1:n.656-25_656-23del
XM_011519895.1:c.656-25_656-23del	XP_011518197.1:n.656-25_656-23del
XM_011519896.1:c.656-25_656-23del	XP_011518198.1:n.656-25_656-23del
XM_011519897.1:c.656-25_656-23del	XP_011518199.1:n.656-25_656-23del
XM_011519898.1:c.656-25_656-23del	XP_011518200.1:n.656-25_656-23del
XR_242777.2:n.1054-261_1054-259del
XM_005252788.2:c.857-25_857-23del	XP_005252845.1:n.857-25_857-23del
XM_005252789.3:c.839-25_839-23del	XP_005252846.1:n.839-25_839-23del
XM_011519895.2:c.656-25_656-23del	XP_011518197.1:n.656-25_656-23del
XM_011519898.3:c.656-25_656-23del	XP_011518200.1:n.656-25_656-23del
XM_017017190.2:c.836-25_836-23del	XP_016872679.1:n.836-25_836-23del
XM_017017191.2:c.656-25_656-23del	XP_016872680.1:n.656-25_656-23del
XM_017017192.2:c.656-25_656-23del	XP_016872681.1:n.656-25_656-23del
XM_017017193.2:c.656-25_656-23del	XP_016872682.1:n.656-25_656-23del
XM_017017194.2:c.656-25_656-23del	XP_016872683.1:n.656-25_656-23del
XM_024448345.1:c.836-25_836-23del	XP_024304113.1:n.836-25_836-23del
XM_024448346.1:c.656-25_656-23del	XP_024304114.1:n.656-25_656-23del
XM_024448347.1:c.656-25_656-23del	XP_024304115.1:n.656-25_656-23del
XM_024448348.1:c.656-25_656-23del	XP_024304116.1:n.656-25_656-23del
XR_002957123.1:n.1017-261_1017-259del
XR_002957124.1:n.1283-261_1283-259del
XR_242777.3:n.1054-261_1054-259del
NM_001377214.1:c.656-25_656-23del	NP_001364143.1:n.656-25_656-23del
NM_001377215.1:c.656-25_656-23del	NP_001364144.1:n.656-25_656-23del
NM_001377216.1:c.656-25_656-23del	NP_001364145.1:n.656-25_656-23del
NM_001377217.1:c.839-25_839-23del	NP_001364146.1:n.839-25_839-23del
NM_001377227.1:c.656-25_656-23del	NP_001364156.1:n.656-25_656-23del
NM_024514.5:c.1001-25_1001-23del MANE Select	NP_078790.2:n.1001-25_1001-23del
NM_001400558.1:c.656-25_656-23del	NP_001387487.1:n.656-25_656-23del
NM_001400559.1:c.656-25_656-23del	NP_001387488.1:n.656-25_656-23del
NM_001400560.1:c.656-25_656-23del	NP_001387489.1:n.656-25_656-23del
NM_001400561.1:c.656-25_656-23del	NP_001387490.1:n.656-25_656-23del
NM_001400562.1:c.302-25_302-23del	NP_001387491.1:n.302-25_302-23del
NM_001400563.1:c.302-25_302-23del	NP_001387492.1:n.302-25_302-23del
NM_001400564.1:c.302-25_302-23del	NP_001387493.1:n.302-25_302-23del
NM_001400565.1:c.302-25_302-23del	NP_001387494.1:n.302-25_302-23del
NM_001400566.1:c.23-25_23-23del	NP_001387495.1:n.23-25_23-23del
NM_001400567.1:c.857-25_857-23del	NP_001387496.1:n.857-25_857-23del
NM_001400568.1:c.956-25_956-23del	NP_001387497.1:n.956-25_956-23del
NR_174512.1:n.1104-261_1104-259del
NR_174513.1:n.953-261_953-259del
NR_174514.1:n.1328-261_1328-259del
NR_174515.1:n.1737-261_1737-259del
NR_174516.1:n.915-261_915-259del
NR_174517.1:n.451-261_451-259del
NR_174518.1:n.1548-261_1548-259del
NR_174519.1:n.1295-261_1295-259del
NR_174520.1:n.1086-261_1086-259del
NR_174521.1:n.1586-261_1586-259del
NR_174522.1:n.1084-261_1084-259del
NR_174523.1:n.1495-261_1495-259del