Canonical Allele Identifier: CA2661450978
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI

Linked Data

gnomAD v4: 2-151497590-T-TAAATA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497592_151497596dup , CM000664.2:g.151497592_151497596dup GRCh38
NC_000002.11:g.152354106_152354110dup , CM000664.1:g.152354106_152354110dup GRCh37
NC_000002.10:g.152062352_152062356dup NCBI36
NG_009382.2:g.241893_241897dup , LRG_202:g.241893_241897dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5101_3075-5097dup (NEB)
ENST00000688578.1:c.900-562_900-558dup (NEB)
ENST00000690043.1:c.6378-3342_6378-3338dup (NEB)
ENST00000693000.1:n.2657-5101_2657-5097dup (NEB)
ENST00000397345.8:c.24300+31_24300+35dup (NEB) MANE Select ENSP00000380505.3:n.24300+31_24300+35dup
ENST00000427231.7:c.24300+31_24300+35dup (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+31_24300+35dup
ENST00000172853.14:c.18826-1227_18826-1223dup (NEB) ENSP00000172853.10:n.18826-1227_18826-1223dup
ENST00000397337.6:c.701+31_701+35dup (NEB)
ENST00000397345.7:c.24300+31_24300+35dup (NEB) ENSP00000380505.3:n.24300+31_24300+35dup
ENST00000409198.5:c.18826-1227_18826-1223dup (NEB) ENSP00000386259.1:n.18826-1227_18826-1223dup
ENST00000413693.5:c.8026-1227_8026-1223dup (NEB) ENSP00000410961.1:n.8026-1227_8026-1223dup
ENST00000421461.6:c.736+31_736+35dup (NEB)
ENST00000424585.1:c.610-562_610-558dup (NEB) ENSP00000404876.1:n.610-562_610-558dup
ENST00000427231.6:c.24300+31_24300+35dup (NEB) ENSP00000416578.2:n.24300+31_24300+35dup
ENST00000434685.5:c.1395-3342_1395-3338dup (NEB)
ENST00000454583.6:c.2754-1753_2754-1749dup (RIF1)
ENST00000457745.1:n.579-194_579-190dup (RIF1)
ENST00000484077.1:n.353-194_353-190dup (RIF1)
ENST00000498015.2:n.226-5101_226-5097dup (NEB)
ENST00000603639.5:c.24300+31_24300+35dup (NEB) ENSP00000473894.1:n.24300+31_24300+35dup
ENST00000604864.5:c.24300+31_24300+35dup (NEB) ENSP00000474498.1:n.24300+31_24300+35dup
ENST00000618972.4:c.24405+31_24405+35dup (NEB) ENSP00000484342.1:n.24405+31_24405+35dup
NM_001164507.1:c.24300+31_24300+35dup (NEB) NP_001157979.1:n.24300+31_24300+35dup
NM_001164508.1:c.24300+31_24300+35dup (NEB) NP_001157980.1:n.24300+31_24300+35dup
NM_001271208.1:c.24405+31_24405+35dup , LRG_202t1:c.24405+31_24405+35dup (NEB) NP_001258137.1:n.24405+31_24405+35dup
NM_004543.4:c.18826-1227_18826-1223dup (NEB) NP_004534.2:n.18826-1227_18826-1223dup
XM_005246590.1:c.24207+31_24207+35dup (NEB) XP_005246647.1:n.24207+31_24207+35dup
XM_005246591.1:c.24207+31_24207+35dup (NEB) XP_005246648.1:n.24207+31_24207+35dup
XM_005246592.1:c.24300+31_24300+35dup (NEB) XP_005246649.1:n.24300+31_24300+35dup
XM_005246593.1:c.24300+31_24300+35dup (NEB) XP_005246650.1:n.24300+31_24300+35dup
XM_005246594.1:c.24207+31_24207+35dup (NEB) XP_005246651.1:n.24207+31_24207+35dup
XM_005246595.1:c.24207+31_24207+35dup (NEB) XP_005246652.1:n.24207+31_24207+35dup
XM_005246596.1:c.24114+31_24114+35dup (NEB) XP_005246653.1:n.24114+31_24114+35dup
XM_005246597.1:c.24300+31_24300+35dup (NEB) XP_005246654.1:n.24300+31_24300+35dup
XM_005246598.1:c.24300+31_24300+35dup (NEB) XP_005246655.1:n.24300+31_24300+35dup
XM_005246599.1:c.24021+31_24021+35dup (NEB) XP_005246656.1:n.24021+31_24021+35dup
XM_005246600.1:c.24021+31_24021+35dup (NEB) XP_005246657.1:n.24021+31_24021+35dup
XM_005246601.1:c.23929-562_23929-558dup (NEB) XP_005246658.1:n.23929-562_23929-558dup
XM_005246602.1:c.23928+31_23928+35dup (NEB) XP_005246659.1:n.23928+31_23928+35dup
XM_005246603.1:c.23929-1227_23929-1223dup (NEB) XP_005246660.1:n.23929-1227_23929-1223dup
XM_005246604.1:c.23929-562_23929-558dup (NEB) XP_005246661.1:n.23929-562_23929-558dup
XM_005246606.1:c.23928+31_23928+35dup (NEB) XP_005246663.1:n.23928+31_23928+35dup
XM_005246608.1:c.23929-3342_23929-3338dup (NEB) XP_005246665.1:n.23929-3342_23929-3338dup
XM_005246610.1:c.23836-3342_23836-3338dup (NEB) XP_005246667.1:n.23836-3342_23836-3338dup
XM_005246611.1:c.24021+3796_24021+3800dup (NEB) XP_005246668.1:n.24021+3796_24021+3800dup
XM_005246612.1:c.23571+31_23571+35dup (NEB) XP_005246669.1:n.23571+31_23571+35dup
XM_005246613.1:c.23571+31_23571+35dup (NEB) XP_005246670.1:n.23571+31_23571+35dup
XM_005246615.1:c.23928+31_23928+35dup (NEB) XP_005246672.1:n.23928+31_23928+35dup
XM_005246616.1:c.*629_*633dup (NEB) XP_005246673.1:n.*629_*633dup
XM_005246617.1:c.21384+31_21384+35dup (NEB) XP_005246674.1:n.21384+31_21384+35dup
XM_006712541.1:c.23929-1227_23929-1223dup (NEB) XP_006712604.1:n.23929-1227_23929-1223dup
XM_006712542.1:c.24021+31_24021+35dup (NEB) XP_006712605.1:n.24021+31_24021+35dup
XM_011511224.1:c.24207+31_24207+35dup (NEB) XP_011509526.1:n.24207+31_24207+35dup
XM_011511225.1:c.23743-3342_23743-3338dup (NEB) XP_011509527.1:n.23743-3342_23743-3338dup
XM_011511226.1:c.22113+31_22113+35dup (NEB) XP_011509528.1:n.22113+31_22113+35dup
XM_011511227.1:c.19926+31_19926+35dup (NEB) XP_011509529.1:n.19926+31_19926+35dup
XR_922955.1:n.7838+14257_7838+14261dup (RIF1)
XR_922956.1:n.7937-194_7937-190dup (RIF1)
XR_922957.1:n.7839-194_7839-190dup (RIF1)
XM_005246590.2:c.24207+31_24207+35dup (NEB) XP_005246647.1:n.24207+31_24207+35dup
XM_005246591.2:c.24207+31_24207+35dup (NEB) XP_005246648.1:n.24207+31_24207+35dup
XM_005246592.2:c.24300+31_24300+35dup (NEB) XP_005246649.1:n.24300+31_24300+35dup
XM_005246593.2:c.24300+31_24300+35dup (NEB) XP_005246650.1:n.24300+31_24300+35dup
XM_005246594.2:c.24207+31_24207+35dup (NEB) XP_005246651.1:n.24207+31_24207+35dup
XM_005246596.2:c.24114+31_24114+35dup (NEB) XP_005246653.1:n.24114+31_24114+35dup
XM_005246597.2:c.24300+31_24300+35dup (NEB) XP_005246654.1:n.24300+31_24300+35dup
XM_005246598.2:c.24300+31_24300+35dup (NEB) XP_005246655.1:n.24300+31_24300+35dup
XM_005246599.2:c.24021+31_24021+35dup (NEB) XP_005246656.1:n.24021+31_24021+35dup
XM_005246601.2:c.23929-562_23929-558dup (NEB) XP_005246658.1:n.23929-562_23929-558dup
XM_005246602.2:c.23928+31_23928+35dup (NEB) XP_005246659.1:n.23928+31_23928+35dup
XM_005246603.2:c.23929-1227_23929-1223dup (NEB) XP_005246660.1:n.23929-1227_23929-1223dup
XM_005246604.2:c.23929-562_23929-558dup (NEB) XP_005246661.1:n.23929-562_23929-558dup
XM_005246606.2:c.23928+31_23928+35dup (NEB) XP_005246663.1:n.23928+31_23928+35dup
XM_005246608.2:c.23929-3342_23929-3338dup (NEB) XP_005246665.1:n.23929-3342_23929-3338dup
XM_005246610.2:c.23836-3342_23836-3338dup (NEB) XP_005246667.1:n.23836-3342_23836-3338dup
XM_005246611.2:c.24021+3796_24021+3800dup (NEB) XP_005246668.1:n.24021+3796_24021+3800dup
XM_005246612.2:c.23571+31_23571+35dup (NEB) XP_005246669.1:n.23571+31_23571+35dup
XM_005246613.2:c.23571+31_23571+35dup (NEB) XP_005246670.1:n.23571+31_23571+35dup
XM_005246615.2:c.23928+31_23928+35dup (NEB) XP_005246672.1:n.23928+31_23928+35dup
XM_005246617.2:c.21384+31_21384+35dup (NEB) XP_005246674.1:n.21384+31_21384+35dup
XM_006712541.2:c.23929-1227_23929-1223dup (NEB) XP_006712604.1:n.23929-1227_23929-1223dup
XM_006712542.2:c.24021+31_24021+35dup (NEB) XP_006712605.1:n.24021+31_24021+35dup
XM_011511225.2:c.23743-3342_23743-3338dup (NEB) XP_011509527.1:n.23743-3342_23743-3338dup
XM_011511226.2:c.22113+31_22113+35dup (NEB) XP_011509528.1:n.22113+31_22113+35dup
XM_011511227.2:c.19926+31_19926+35dup (NEB) XP_011509529.1:n.19926+31_19926+35dup
XM_017004177.1:c.24189+31_24189+35dup (NEB) XP_016859666.1:n.24189+31_24189+35dup
XM_017004178.1:c.24114+31_24114+35dup (NEB) XP_016859667.1:n.24114+31_24114+35dup
XM_017004179.1:c.23836-562_23836-558dup (NEB) XP_016859668.1:n.23836-562_23836-558dup
XM_017004180.1:c.23835+31_23835+35dup (NEB) XP_016859669.1:n.23835+31_23835+35dup
XM_017004181.1:c.23836-1227_23836-1223dup (NEB) XP_016859670.1:n.23836-1227_23836-1223dup
XM_017004182.1:c.23836-1227_23836-1223dup (NEB) XP_016859671.1:n.23836-1227_23836-1223dup
XM_017004183.1:c.23836-3342_23836-3338dup (NEB) XP_016859672.1:n.23836-3342_23836-3338dup
XM_017004184.1:c.23836-1227_23836-1223dup (NEB) XP_016859673.1:n.23836-1227_23836-1223dup
XM_017004185.1:c.23743-5101_23743-5097dup (NEB) XP_016859674.1:n.23743-5101_23743-5097dup
XR_001738811.2:n.8312-194_8312-190dup (RIF1)
XR_001738812.2:n.8312-1813_8312-1809dup (RIF1)
XR_001738813.2:n.8214-194_8214-190dup (RIF1)
XR_001738814.2:n.8214-1813_8214-1809dup (RIF1)
XR_001738815.2:n.8214-5442_8214-5438dup (RIF1)
XR_001738816.2:n.8214-8618_8214-8614dup (RIF1)
XR_001738817.2:n.8213+14257_8213+14261dup (RIF1)
NM_001271208.2:c.24405+31_24405+35dup (NEB) NP_001258137.2:n.24405+31_24405+35dup
NM_004543.5:c.18826-1227_18826-1223dup (NEB) NP_004534.3:n.18826-1227_18826-1223dup
NM_001164507.2:c.24300+31_24300+35dup (NEB) MANE Plus Clinical NP_001157979.2:n.24300+31_24300+35dup
NM_001164508.2:c.24300+31_24300+35dup (NEB) MANE Select NP_001157980.2:n.24300+31_24300+35dup
Search 100 bp 5'
Search 100 bp 3'