Canonical Allele Identifier: CA5896722

Gene: CYP2R1

Linked Data

• dbSNP Id: rs782738941
• ExAC: 11:14907383 TTGA / T
• gnomAD v2: 11-14907383-TTGA-T
• gnomAD v3: 11-14885837-TTGA-T
• gnomAD v4: 11-14885837-TTGA-T
• MyVariant Identifiers: chr11:g.14907384_14907386del (hg19) ; chr11:g.14885838_14885840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14885841_14885843del , CM000673.2:g.14885841_14885843del	GRCh38
NC_000011.9:g.14907387_14907389del , CM000673.1:g.14907387_14907389del	GRCh37
NC_000011.8:g.14863963_14863965del	NCBI36
NG_007936.1:g.11366_11368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.303_305del MANE Select	ENSP00000334592.5:p.His101del
ENST00000334636.9:c.303_305del	ENSP00000334592.5:p.His101del
ENST00000526276.5:n.207_209del
ENST00000526489.5:n.178_180del
ENST00000529043.1:n.283_285del
ENST00000530609.5:c.13_15del	ENSP00000466060.1:p.Ser5del
ENST00000532378.5:c.13_15del	ENSP00000435484.1:p.Ser5del
ENST00000532641.1:n.138_140del
ENST00000532805.1:c.13_15del	ENSP00000465097.1:p.Ser5del
ENST00000534686.5:c.13_15del	ENSP00000432087.2:p.Ser5del
NM_024514.4:c.303_305del	NP_078790.2:p.His101del
XM_005252788.1:c.159_161del	XP_005252845.1:p.His53del
XM_005252789.2:c.141_143del	XP_005252846.1:p.His47del
XM_005252791.3:c.-43_-41del	XP_005252848.1:n.-43_-41del
XM_006718142.2:c.258_260del	XP_006718205.1:p.His86del
XM_011519894.1:c.-43_-41del	XP_011518196.1:n.-43_-41del
XM_011519895.1:c.-43_-41del	XP_011518197.1:n.-43_-41del
XM_011519896.1:c.-43_-41del	XP_011518198.1:n.-43_-41del
XM_011519897.1:c.-43_-41del	XP_011518199.1:n.-43_-41del
XM_011519898.1:c.-43_-41del	XP_011518200.1:n.-43_-41del
XR_242777.2:n.356_358del
XM_005252788.2:c.159_161del	XP_005252845.1:p.His53del
XM_005252789.3:c.141_143del	XP_005252846.1:p.His47del
XM_011519895.2:c.-43_-41del	XP_011518197.1:n.-43_-41del
XM_011519898.3:c.-43_-41del	XP_011518200.1:n.-43_-41del
XM_017017190.2:c.138_140del	XP_016872679.1:p.His46del
XM_017017191.2:c.-43_-41del	XP_016872680.1:n.-43_-41del
XM_017017192.2:c.-43_-41del	XP_016872681.1:n.-43_-41del
XM_017017193.2:c.-43_-41del	XP_016872682.1:n.-43_-41del
XM_017017194.2:c.-43_-41del	XP_016872683.1:n.-43_-41del
XM_024448345.1:c.138_140del	XP_024304113.1:p.His46del
XM_024448346.1:c.-43_-41del	XP_024304114.1:n.-43_-41del
XM_024448347.1:c.-43_-41del	XP_024304115.1:n.-43_-41del
XM_024448348.1:c.-43_-41del	XP_024304116.1:n.-43_-41del
XR_002957123.1:n.319_321del
XR_002957124.1:n.585_587del
XR_242777.3:n.356_358del
NM_001377214.1:c.-43_-41del	NP_001364143.1:n.-43_-41del
NM_001377215.1:c.-43_-41del	NP_001364144.1:n.-43_-41del
NM_001377216.1:c.-43_-41del	NP_001364145.1:n.-43_-41del
NM_001377217.1:c.141_143del	NP_001364146.1:p.His47del
NM_001377227.1:c.-43_-41del	NP_001364156.1:n.-43_-41del
NM_024514.5:c.303_305del MANE Select	NP_078790.2:p.His101del
NM_001400558.1:c.-43_-41del	NP_001387487.1:n.-43_-41del
NM_001400559.1:c.-43_-41del	NP_001387488.1:n.-43_-41del
NM_001400560.1:c.-43_-41del	NP_001387489.1:n.-43_-41del
NM_001400561.1:c.-43_-41del	NP_001387490.1:n.-43_-41del
NM_001400562.1:c.13_15del	NP_001387491.1:p.Ser5del
NM_001400563.1:c.13_15del	NP_001387492.1:p.Ser5del
NM_001400564.1:c.13_15del	NP_001387493.1:p.Ser5del
NM_001400565.1:c.13_15del	NP_001387494.1:p.Ser5del
NM_001400566.1:c.-43_-41del	NP_001387495.1:n.-43_-41del
NM_001400567.1:c.159_161del	NP_001387496.1:p.His53del
NM_001400568.1:c.258_260del	NP_001387497.1:p.His86del
NR_174512.1:n.1039_1041del
NR_174513.1:n.888_890del
NR_174514.1:n.1039_1041del
NR_174515.1:n.1039_1041del
NR_174516.1:n.850_852del
NR_174517.1:n.386_388del
NR_174518.1:n.850_852del
NR_174519.1:n.597_599del
NR_174520.1:n.797_799del
NR_174521.1:n.888_890del
NR_174522.1:n.386_388del
NR_174523.1:n.797_799del