Canonical Allele Identifier: CA1298151599
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI

Linked Data

dbSNP Id: rs2061065791
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497561_151497565dup , CM000664.2:g.151497561_151497565dup GRCh38
NC_000002.11:g.152354075_152354079dup , CM000664.1:g.152354075_152354079dup GRCh37
NC_000002.10:g.152062321_152062325dup NCBI36
NG_009382.2:g.241926_241930dup , LRG_202:g.241926_241930dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5068_3075-5064dup (NEB)
ENST00000688578.1:c.900-529_900-525dup (NEB)
ENST00000690043.1:c.6378-3309_6378-3305dup (NEB)
ENST00000693000.1:n.2657-5068_2657-5064dup (NEB)
ENST00000397345.8:c.24300+64_24300+68dup (NEB) MANE Select ENSP00000380505.3:n.24300+64_24300+68dup
ENST00000427231.7:c.24300+64_24300+68dup (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+64_24300+68dup
ENST00000172853.14:c.18826-1194_18826-1190dup (NEB) ENSP00000172853.10:n.18826-1194_18826-1190dup
ENST00000397337.6:c.701+64_701+68dup (NEB)
ENST00000397345.7:c.24300+64_24300+68dup (NEB) ENSP00000380505.3:n.24300+64_24300+68dup
ENST00000409198.5:c.18826-1194_18826-1190dup (NEB) ENSP00000386259.1:n.18826-1194_18826-1190dup
ENST00000413693.5:c.8026-1194_8026-1190dup (NEB) ENSP00000410961.1:n.8026-1194_8026-1190dup
ENST00000421461.6:c.736+64_736+68dup (NEB)
ENST00000424585.1:c.610-529_610-525dup (NEB) ENSP00000404876.1:n.610-529_610-525dup
ENST00000427231.6:c.24300+64_24300+68dup (NEB) ENSP00000416578.2:n.24300+64_24300+68dup
ENST00000434685.5:c.1395-3309_1395-3305dup (NEB)
ENST00000454583.6:c.2754-1784_2754-1780dup (RIF1)
ENST00000457745.1:n.579-225_579-221dup (RIF1)
ENST00000484077.1:n.353-225_353-221dup (RIF1)
ENST00000498015.2:n.226-5068_226-5064dup (NEB)
ENST00000603639.5:c.24300+64_24300+68dup (NEB) ENSP00000473894.1:n.24300+64_24300+68dup
ENST00000604864.5:c.24300+64_24300+68dup (NEB) ENSP00000474498.1:n.24300+64_24300+68dup
ENST00000618972.4:c.24405+64_24405+68dup (NEB) ENSP00000484342.1:n.24405+64_24405+68dup
NM_001164507.1:c.24300+64_24300+68dup (NEB) NP_001157979.1:n.24300+64_24300+68dup
NM_001164508.1:c.24300+64_24300+68dup (NEB) NP_001157980.1:n.24300+64_24300+68dup
NM_001271208.1:c.24405+64_24405+68dup , LRG_202t1:c.24405+64_24405+68dup (NEB) NP_001258137.1:n.24405+64_24405+68dup
NM_004543.4:c.18826-1194_18826-1190dup (NEB) NP_004534.2:n.18826-1194_18826-1190dup
XM_005246590.1:c.24207+64_24207+68dup (NEB) XP_005246647.1:n.24207+64_24207+68dup
XM_005246591.1:c.24207+64_24207+68dup (NEB) XP_005246648.1:n.24207+64_24207+68dup
XM_005246592.1:c.24300+64_24300+68dup (NEB) XP_005246649.1:n.24300+64_24300+68dup
XM_005246593.1:c.24300+64_24300+68dup (NEB) XP_005246650.1:n.24300+64_24300+68dup
XM_005246594.1:c.24207+64_24207+68dup (NEB) XP_005246651.1:n.24207+64_24207+68dup
XM_005246595.1:c.24207+64_24207+68dup (NEB) XP_005246652.1:n.24207+64_24207+68dup
XM_005246596.1:c.24114+64_24114+68dup (NEB) XP_005246653.1:n.24114+64_24114+68dup
XM_005246597.1:c.24300+64_24300+68dup (NEB) XP_005246654.1:n.24300+64_24300+68dup
XM_005246598.1:c.24300+64_24300+68dup (NEB) XP_005246655.1:n.24300+64_24300+68dup
XM_005246599.1:c.24021+64_24021+68dup (NEB) XP_005246656.1:n.24021+64_24021+68dup
XM_005246600.1:c.24021+64_24021+68dup (NEB) XP_005246657.1:n.24021+64_24021+68dup
XM_005246601.1:c.23929-529_23929-525dup (NEB) XP_005246658.1:n.23929-529_23929-525dup
XM_005246602.1:c.23928+64_23928+68dup (NEB) XP_005246659.1:n.23928+64_23928+68dup
XM_005246603.1:c.23929-1194_23929-1190dup (NEB) XP_005246660.1:n.23929-1194_23929-1190dup
XM_005246604.1:c.23929-529_23929-525dup (NEB) XP_005246661.1:n.23929-529_23929-525dup
XM_005246606.1:c.23928+64_23928+68dup (NEB) XP_005246663.1:n.23928+64_23928+68dup
XM_005246608.1:c.23929-3309_23929-3305dup (NEB) XP_005246665.1:n.23929-3309_23929-3305dup
XM_005246610.1:c.23836-3309_23836-3305dup (NEB) XP_005246667.1:n.23836-3309_23836-3305dup
XM_005246611.1:c.24021+3829_24021+3833dup (NEB) XP_005246668.1:n.24021+3829_24021+3833dup
XM_005246612.1:c.23571+64_23571+68dup (NEB) XP_005246669.1:n.23571+64_23571+68dup
XM_005246613.1:c.23571+64_23571+68dup (NEB) XP_005246670.1:n.23571+64_23571+68dup
XM_005246615.1:c.23928+64_23928+68dup (NEB) XP_005246672.1:n.23928+64_23928+68dup
XM_005246616.1:c.*662_*666dup (NEB) XP_005246673.1:n.*662_*666dup
XM_005246617.1:c.21384+64_21384+68dup (NEB) XP_005246674.1:n.21384+64_21384+68dup
XM_006712541.1:c.23929-1194_23929-1190dup (NEB) XP_006712604.1:n.23929-1194_23929-1190dup
XM_006712542.1:c.24021+64_24021+68dup (NEB) XP_006712605.1:n.24021+64_24021+68dup
XM_011511224.1:c.24207+64_24207+68dup (NEB) XP_011509526.1:n.24207+64_24207+68dup
XM_011511225.1:c.23743-3309_23743-3305dup (NEB) XP_011509527.1:n.23743-3309_23743-3305dup
XM_011511226.1:c.22113+64_22113+68dup (NEB) XP_011509528.1:n.22113+64_22113+68dup
XM_011511227.1:c.19926+64_19926+68dup (NEB) XP_011509529.1:n.19926+64_19926+68dup
XR_922955.1:n.7838+14226_7838+14230dup (RIF1)
XR_922956.1:n.7937-225_7937-221dup (RIF1)
XR_922957.1:n.7839-225_7839-221dup (RIF1)
XM_005246590.2:c.24207+64_24207+68dup (NEB) XP_005246647.1:n.24207+64_24207+68dup
XM_005246591.2:c.24207+64_24207+68dup (NEB) XP_005246648.1:n.24207+64_24207+68dup
XM_005246592.2:c.24300+64_24300+68dup (NEB) XP_005246649.1:n.24300+64_24300+68dup
XM_005246593.2:c.24300+64_24300+68dup (NEB) XP_005246650.1:n.24300+64_24300+68dup
XM_005246594.2:c.24207+64_24207+68dup (NEB) XP_005246651.1:n.24207+64_24207+68dup
XM_005246596.2:c.24114+64_24114+68dup (NEB) XP_005246653.1:n.24114+64_24114+68dup
XM_005246597.2:c.24300+64_24300+68dup (NEB) XP_005246654.1:n.24300+64_24300+68dup
XM_005246598.2:c.24300+64_24300+68dup (NEB) XP_005246655.1:n.24300+64_24300+68dup
XM_005246599.2:c.24021+64_24021+68dup (NEB) XP_005246656.1:n.24021+64_24021+68dup
XM_005246601.2:c.23929-529_23929-525dup (NEB) XP_005246658.1:n.23929-529_23929-525dup
XM_005246602.2:c.23928+64_23928+68dup (NEB) XP_005246659.1:n.23928+64_23928+68dup
XM_005246603.2:c.23929-1194_23929-1190dup (NEB) XP_005246660.1:n.23929-1194_23929-1190dup
XM_005246604.2:c.23929-529_23929-525dup (NEB) XP_005246661.1:n.23929-529_23929-525dup
XM_005246606.2:c.23928+64_23928+68dup (NEB) XP_005246663.1:n.23928+64_23928+68dup
XM_005246608.2:c.23929-3309_23929-3305dup (NEB) XP_005246665.1:n.23929-3309_23929-3305dup
XM_005246610.2:c.23836-3309_23836-3305dup (NEB) XP_005246667.1:n.23836-3309_23836-3305dup
XM_005246611.2:c.24021+3829_24021+3833dup (NEB) XP_005246668.1:n.24021+3829_24021+3833dup
XM_005246612.2:c.23571+64_23571+68dup (NEB) XP_005246669.1:n.23571+64_23571+68dup
XM_005246613.2:c.23571+64_23571+68dup (NEB) XP_005246670.1:n.23571+64_23571+68dup
XM_005246615.2:c.23928+64_23928+68dup (NEB) XP_005246672.1:n.23928+64_23928+68dup
XM_005246617.2:c.21384+64_21384+68dup (NEB) XP_005246674.1:n.21384+64_21384+68dup
XM_006712541.2:c.23929-1194_23929-1190dup (NEB) XP_006712604.1:n.23929-1194_23929-1190dup
XM_006712542.2:c.24021+64_24021+68dup (NEB) XP_006712605.1:n.24021+64_24021+68dup
XM_011511225.2:c.23743-3309_23743-3305dup (NEB) XP_011509527.1:n.23743-3309_23743-3305dup
XM_011511226.2:c.22113+64_22113+68dup (NEB) XP_011509528.1:n.22113+64_22113+68dup
XM_011511227.2:c.19926+64_19926+68dup (NEB) XP_011509529.1:n.19926+64_19926+68dup
XM_017004177.1:c.24189+64_24189+68dup (NEB) XP_016859666.1:n.24189+64_24189+68dup
XM_017004178.1:c.24114+64_24114+68dup (NEB) XP_016859667.1:n.24114+64_24114+68dup
XM_017004179.1:c.23836-529_23836-525dup (NEB) XP_016859668.1:n.23836-529_23836-525dup
XM_017004180.1:c.23835+64_23835+68dup (NEB) XP_016859669.1:n.23835+64_23835+68dup
XM_017004181.1:c.23836-1194_23836-1190dup (NEB) XP_016859670.1:n.23836-1194_23836-1190dup
XM_017004182.1:c.23836-1194_23836-1190dup (NEB) XP_016859671.1:n.23836-1194_23836-1190dup
XM_017004183.1:c.23836-3309_23836-3305dup (NEB) XP_016859672.1:n.23836-3309_23836-3305dup
XM_017004184.1:c.23836-1194_23836-1190dup (NEB) XP_016859673.1:n.23836-1194_23836-1190dup
XM_017004185.1:c.23743-5068_23743-5064dup (NEB) XP_016859674.1:n.23743-5068_23743-5064dup
XR_001738811.2:n.8312-225_8312-221dup (RIF1)
XR_001738812.2:n.8312-1844_8312-1840dup (RIF1)
XR_001738813.2:n.8214-225_8214-221dup (RIF1)
XR_001738814.2:n.8214-1844_8214-1840dup (RIF1)
XR_001738815.2:n.8214-5473_8214-5469dup (RIF1)
XR_001738816.2:n.8214-8649_8214-8645dup (RIF1)
XR_001738817.2:n.8213+14226_8213+14230dup (RIF1)
NM_001271208.2:c.24405+64_24405+68dup (NEB) NP_001258137.2:n.24405+64_24405+68dup
NM_004543.5:c.18826-1194_18826-1190dup (NEB) NP_004534.3:n.18826-1194_18826-1190dup
NM_001164507.2:c.24300+64_24300+68dup (NEB) MANE Plus Clinical NP_001157979.2:n.24300+64_24300+68dup
NM_001164508.2:c.24300+64_24300+68dup (NEB) MANE Select NP_001157980.2:n.24300+64_24300+68dup
Search 100 bp 5'
Search 100 bp 3'