Canonical Allele Identifier: CA5896508

Gene: CYP2R1

Linked Data

• dbSNP Id: rs781875606
• ExAC: 11:14900624 TTATTC / T
• gnomAD v2: 11-14900624-TTATTC-T
• MyVariant Identifiers: chr11:g.14900625_14900629del (hg19) ; chr11:g.14879079_14879083del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.14879081_14879085del , CM000673.2:g.14879081_14879085del	GRCh38
NC_000011.9:g.14900627_14900631del , CM000673.1:g.14900627_14900631del	GRCh37
NC_000011.8:g.14857203_14857207del	NCBI36
NG_007936.1:g.18123_18127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334636.10:c.1330+31_1330+35del MANE Select	ENSP00000334592.5:n.1330+31_1330+35del
ENST00000334636.9:c.1330+31_1330+35del	ENSP00000334592.5:n.1330+31_1330+35del
ENST00000525015.1:c.160+31_160+35del
ENST00000530609.5:c.*926+31_*926+35del	ENSP00000466060.1:n.*926+31_*926+35del
ENST00000532378.5:c.631+31_631+35del	ENSP00000435484.1:n.631+31_631+35del
ENST00000532805.1:c.*438+31_*438+35del	ENSP00000465097.1:n.*438+31_*438+35del
ENST00000534686.5:c.*690+31_*690+35del	ENSP00000432087.2:n.*690+31_*690+35del
NM_024514.4:c.1330+31_1330+35del	NP_078790.2:n.1330+31_1330+35del
XM_005252788.1:c.1186+31_1186+35del	XP_005252845.1:n.1186+31_1186+35del
XM_005252789.2:c.1168+31_1168+35del	XP_005252846.1:n.1168+31_1168+35del
XM_005252791.3:c.985+31_985+35del	XP_005252848.1:n.985+31_985+35del
XM_006718142.2:c.1285+31_1285+35del	XP_006718205.1:n.1285+31_1285+35del
XM_011519894.1:c.985+31_985+35del	XP_011518196.1:n.985+31_985+35del
XM_011519895.1:c.985+31_985+35del	XP_011518197.1:n.985+31_985+35del
XM_011519896.1:c.985+31_985+35del	XP_011518198.1:n.985+31_985+35del
XM_011519897.1:c.985+31_985+35del	XP_011518199.1:n.985+31_985+35del
XM_011519898.1:c.985+31_985+35del	XP_011518200.1:n.985+31_985+35del
XR_242777.2:n.1147+31_1147+35del
XM_005252788.2:c.1186+31_1186+35del	XP_005252845.1:n.1186+31_1186+35del
XM_005252789.3:c.1168+31_1168+35del	XP_005252846.1:n.1168+31_1168+35del
XM_011519895.2:c.985+31_985+35del	XP_011518197.1:n.985+31_985+35del
XM_011519898.3:c.985+31_985+35del	XP_011518200.1:n.985+31_985+35del
XM_017017190.2:c.1165+31_1165+35del	XP_016872679.1:n.1165+31_1165+35del
XM_017017191.2:c.985+31_985+35del	XP_016872680.1:n.985+31_985+35del
XM_017017192.2:c.985+31_985+35del	XP_016872681.1:n.985+31_985+35del
XM_017017193.2:c.985+31_985+35del	XP_016872682.1:n.985+31_985+35del
XM_017017194.2:c.985+31_985+35del	XP_016872683.1:n.985+31_985+35del
XM_024448345.1:c.1165+31_1165+35del	XP_024304113.1:n.1165+31_1165+35del
XM_024448346.1:c.985+31_985+35del	XP_024304114.1:n.985+31_985+35del
XM_024448347.1:c.985+31_985+35del	XP_024304115.1:n.985+31_985+35del
XM_024448348.1:c.985+31_985+35del	XP_024304116.1:n.985+31_985+35del
XR_002957123.1:n.1110+31_1110+35del
XR_002957124.1:n.1376+31_1376+35del
XR_242777.3:n.1147+31_1147+35del
NM_001377214.1:c.985+31_985+35del	NP_001364143.1:n.985+31_985+35del
NM_001377215.1:c.985+31_985+35del	NP_001364144.1:n.985+31_985+35del
NM_001377216.1:c.985+31_985+35del	NP_001364145.1:n.985+31_985+35del
NM_001377217.1:c.1168+31_1168+35del	NP_001364146.1:n.1168+31_1168+35del
NM_001377227.1:c.985+31_985+35del	NP_001364156.1:n.985+31_985+35del
NM_024514.5:c.1330+31_1330+35del MANE Select	NP_078790.2:n.1330+31_1330+35del
NM_001400558.1:c.985+31_985+35del	NP_001387487.1:n.985+31_985+35del
NM_001400559.1:c.985+31_985+35del	NP_001387488.1:n.985+31_985+35del
NM_001400560.1:c.985+31_985+35del	NP_001387489.1:n.985+31_985+35del
NM_001400561.1:c.985+31_985+35del	NP_001387490.1:n.985+31_985+35del
NM_001400562.1:c.631+31_631+35del	NP_001387491.1:n.631+31_631+35del
NM_001400563.1:c.631+31_631+35del	NP_001387492.1:n.631+31_631+35del
NM_001400564.1:c.631+31_631+35del	NP_001387493.1:n.631+31_631+35del
NM_001400565.1:c.631+31_631+35del	NP_001387494.1:n.631+31_631+35del
NM_001400566.1:c.352+31_352+35del	NP_001387495.1:n.352+31_352+35del
NM_001400567.1:c.1186+31_1186+35del	NP_001387496.1:n.1186+31_1186+35del
NM_001400568.1:c.1285+31_1285+35del	NP_001387497.1:n.1285+31_1285+35del
NR_174512.1:n.1197+31_1197+35del
NR_174513.1:n.1046+31_1046+35del
NR_174514.1:n.1421+31_1421+35del
NR_174515.1:n.1830+31_1830+35del
NR_174516.1:n.1008+31_1008+35del
NR_174517.1:n.544+31_544+35del
NR_174518.1:n.1641+31_1641+35del
NR_174519.1:n.1388+31_1388+35del
NR_174520.1:n.1179+31_1179+35del
NR_174521.1:n.1679+31_1679+35del
NR_174522.1:n.1177+31_1177+35del
NR_174523.1:n.1588+31_1588+35del