Canonical Allele Identifier: CA5896718

Gene: CYP2R1

Linked Data

• dbSNP Id: rs782141542
• ExAC: 11:14907360 GGTCT / G
• gnomAD v2: 11-14907360-GGTCT-G
• gnomAD v3: 11-14885814-GGTCT-G
• gnomAD v4: 11-14885814-GGTCT-G
• MyVariant Identifiers: chr11:g.14907361_14907364del (hg19) ; chr11:g.14885815_14885818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14885820_14885823del , CM000673.2:g.14885820_14885823del	GRCh38
NC_000011.9:g.14907366_14907369del , CM000673.1:g.14907366_14907369del	GRCh37
NC_000011.8:g.14863942_14863945del	NCBI36
NG_007936.1:g.11388_11391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.325_328del MANE Select	ENSP00000334592.5:p.Arg109HisfsTer7
ENST00000334636.9:c.325_328del	ENSP00000334592.5:p.Arg109HisfsTer7
ENST00000525015.1:c.24_27del
ENST00000526276.5:n.229_232del
ENST00000526489.5:n.200_203del
ENST00000529043.1:n.305_308del
ENST00000530609.5:c.35_38del	ENSP00000466060.1:p.Gln12ProfsTer?
ENST00000532378.5:c.35_38del	ENSP00000435484.1:p.Gln12ProfsTer?
ENST00000532641.1:n.160_163del
ENST00000532805.1:c.35_38del	ENSP00000465097.1:p.Gln12ProfsTer?
ENST00000534686.5:c.35_38del	ENSP00000432087.2:p.Gln12ProfsTer?
NM_024514.4:c.325_328del	NP_078790.2:p.Arg109HisfsTer7
XM_005252788.1:c.181_184del	XP_005252845.1:p.Arg61HisfsTer7
XM_005252789.2:c.163_166del	XP_005252846.1:p.Arg55HisfsTer7
XM_005252791.3:c.-21_-18del	XP_005252848.1:n.-21_-18del
XM_006718142.2:c.280_283del	XP_006718205.1:p.Arg94HisfsTer7
XM_011519894.1:c.-21_-18del	XP_011518196.1:n.-21_-18del
XM_011519895.1:c.-21_-18del	XP_011518197.1:n.-21_-18del
XM_011519896.1:c.-21_-18del	XP_011518198.1:n.-21_-18del
XM_011519897.1:c.-21_-18del	XP_011518199.1:n.-21_-18del
XM_011519898.1:c.-21_-18del	XP_011518200.1:n.-21_-18del
XR_242777.2:n.378_381del
XM_005252788.2:c.181_184del	XP_005252845.1:p.Arg61HisfsTer7
XM_005252789.3:c.163_166del	XP_005252846.1:p.Arg55HisfsTer7
XM_011519895.2:c.-21_-18del	XP_011518197.1:n.-21_-18del
XM_011519898.3:c.-21_-18del	XP_011518200.1:n.-21_-18del
XM_017017190.2:c.160_163del	XP_016872679.1:p.Arg54HisfsTer7
XM_017017191.2:c.-21_-18del	XP_016872680.1:n.-21_-18del
XM_017017192.2:c.-21_-18del	XP_016872681.1:n.-21_-18del
XM_017017193.2:c.-21_-18del	XP_016872682.1:n.-21_-18del
XM_017017194.2:c.-21_-18del	XP_016872683.1:n.-21_-18del
XM_024448345.1:c.160_163del	XP_024304113.1:p.Arg54HisfsTer7
XM_024448346.1:c.-21_-18del	XP_024304114.1:n.-21_-18del
XM_024448347.1:c.-21_-18del	XP_024304115.1:n.-21_-18del
XM_024448348.1:c.-21_-18del	XP_024304116.1:n.-21_-18del
XR_002957123.1:n.341_344del
XR_002957124.1:n.607_610del
XR_242777.3:n.378_381del
NM_001377214.1:c.-21_-18del	NP_001364143.1:n.-21_-18del
NM_001377215.1:c.-21_-18del	NP_001364144.1:n.-21_-18del
NM_001377216.1:c.-21_-18del	NP_001364145.1:n.-21_-18del
NM_001377217.1:c.163_166del	NP_001364146.1:p.Arg55HisfsTer7
NM_001377227.1:c.-21_-18del	NP_001364156.1:n.-21_-18del
NM_024514.5:c.325_328del MANE Select	NP_078790.2:p.Arg109HisfsTer7
NM_001400558.1:c.-21_-18del	NP_001387487.1:n.-21_-18del
NM_001400559.1:c.-21_-18del	NP_001387488.1:n.-21_-18del
NM_001400560.1:c.-21_-18del	NP_001387489.1:n.-21_-18del
NM_001400561.1:c.-21_-18del	NP_001387490.1:n.-21_-18del
NM_001400562.1:c.35_38del	NP_001387491.1:p.Gln12ProfsTer?
NM_001400563.1:c.35_38del	NP_001387492.1:p.Gln12ProfsTer?
NM_001400564.1:c.35_38del	NP_001387493.1:p.Gln12ProfsTer?
NM_001400565.1:c.35_38del	NP_001387494.1:p.Gln12ProfsTer?
NM_001400566.1:c.-21_-18del	NP_001387495.1:n.-21_-18del
NM_001400567.1:c.181_184del	NP_001387496.1:p.Arg61HisfsTer7
NM_001400568.1:c.280_283del	NP_001387497.1:p.Arg94HisfsTer7
NR_174512.1:n.1061_1064del
NR_174513.1:n.910_913del
NR_174514.1:n.1061_1064del
NR_174515.1:n.1061_1064del
NR_174516.1:n.872_875del
NR_174517.1:n.408_411del
NR_174518.1:n.872_875del
NR_174519.1:n.619_622del
NR_174520.1:n.819_822del
NR_174521.1:n.910_913del
NR_174522.1:n.408_411del
NR_174523.1:n.819_822del