Canonical Allele Identifier: CA2577119206
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497608_151497611dup , CM000664.2:g.151497608_151497611dup GRCh38
NC_000002.11:g.152354122_152354125dup , CM000664.1:g.152354122_152354125dup GRCh37
NC_000002.10:g.152062368_152062371dup NCBI36
NG_009382.2:g.241880_241883dup , LRG_202:g.241880_241883dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5114_3075-5111dup (NEB)
ENST00000688578.1:c.900-575_900-572dup (NEB)
ENST00000690043.1:c.6378-3355_6378-3352dup (NEB)
ENST00000693000.1:n.2657-5114_2657-5111dup (NEB)
ENST00000397345.8:c.24300+18_24300+21dup (NEB) MANE Select ENSP00000380505.3:n.24300+18_24300+21dup
ENST00000427231.7:c.24300+18_24300+21dup (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+18_24300+21dup
ENST00000172853.14:c.18826-1240_18826-1237dup (NEB) ENSP00000172853.10:n.18826-1240_18826-1237dup
ENST00000397337.6:c.701+18_701+21dup (NEB)
ENST00000397345.7:c.24300+18_24300+21dup (NEB) ENSP00000380505.3:n.24300+18_24300+21dup
ENST00000409198.5:c.18826-1240_18826-1237dup (NEB) ENSP00000386259.1:n.18826-1240_18826-1237dup
ENST00000413693.5:c.8026-1240_8026-1237dup (NEB) ENSP00000410961.1:n.8026-1240_8026-1237dup
ENST00000421461.6:c.736+18_736+21dup (NEB)
ENST00000424585.1:c.610-575_610-572dup (NEB) ENSP00000404876.1:n.610-575_610-572dup
ENST00000427231.6:c.24300+18_24300+21dup (NEB) ENSP00000416578.2:n.24300+18_24300+21dup
ENST00000434685.5:c.1395-3355_1395-3352dup (NEB)
ENST00000454583.6:c.2754-1737_2754-1734dup (RIF1)
ENST00000457745.1:n.579-178_579-175dup (RIF1)
ENST00000484077.1:n.353-178_353-175dup (RIF1)
ENST00000498015.2:n.226-5114_226-5111dup (NEB)
ENST00000603639.5:c.24300+18_24300+21dup (NEB) ENSP00000473894.1:n.24300+18_24300+21dup
ENST00000604864.5:c.24300+18_24300+21dup (NEB) ENSP00000474498.1:n.24300+18_24300+21dup
ENST00000618972.4:c.24405+18_24405+21dup (NEB) ENSP00000484342.1:n.24405+18_24405+21dup
NM_001164507.1:c.24300+18_24300+21dup (NEB) NP_001157979.1:n.24300+18_24300+21dup
NM_001164508.1:c.24300+18_24300+21dup (NEB) NP_001157980.1:n.24300+18_24300+21dup
NM_001271208.1:c.24405+18_24405+21dup , LRG_202t1:c.24405+18_24405+21dup (NEB) NP_001258137.1:n.24405+18_24405+21dup
NM_004543.4:c.18826-1240_18826-1237dup (NEB) NP_004534.2:n.18826-1240_18826-1237dup
XM_005246590.1:c.24207+18_24207+21dup (NEB) XP_005246647.1:n.24207+18_24207+21dup
XM_005246591.1:c.24207+18_24207+21dup (NEB) XP_005246648.1:n.24207+18_24207+21dup
XM_005246592.1:c.24300+18_24300+21dup (NEB) XP_005246649.1:n.24300+18_24300+21dup
XM_005246593.1:c.24300+18_24300+21dup (NEB) XP_005246650.1:n.24300+18_24300+21dup
XM_005246594.1:c.24207+18_24207+21dup (NEB) XP_005246651.1:n.24207+18_24207+21dup
XM_005246595.1:c.24207+18_24207+21dup (NEB) XP_005246652.1:n.24207+18_24207+21dup
XM_005246596.1:c.24114+18_24114+21dup (NEB) XP_005246653.1:n.24114+18_24114+21dup
XM_005246597.1:c.24300+18_24300+21dup (NEB) XP_005246654.1:n.24300+18_24300+21dup
XM_005246598.1:c.24300+18_24300+21dup (NEB) XP_005246655.1:n.24300+18_24300+21dup
XM_005246599.1:c.24021+18_24021+21dup (NEB) XP_005246656.1:n.24021+18_24021+21dup
XM_005246600.1:c.24021+18_24021+21dup (NEB) XP_005246657.1:n.24021+18_24021+21dup
XM_005246601.1:c.23929-575_23929-572dup (NEB) XP_005246658.1:n.23929-575_23929-572dup
XM_005246602.1:c.23928+18_23928+21dup (NEB) XP_005246659.1:n.23928+18_23928+21dup
XM_005246603.1:c.23929-1240_23929-1237dup (NEB) XP_005246660.1:n.23929-1240_23929-1237dup
XM_005246604.1:c.23929-575_23929-572dup (NEB) XP_005246661.1:n.23929-575_23929-572dup
XM_005246606.1:c.23928+18_23928+21dup (NEB) XP_005246663.1:n.23928+18_23928+21dup
XM_005246608.1:c.23929-3355_23929-3352dup (NEB) XP_005246665.1:n.23929-3355_23929-3352dup
XM_005246610.1:c.23836-3355_23836-3352dup (NEB) XP_005246667.1:n.23836-3355_23836-3352dup
XM_005246611.1:c.24021+3783_24021+3786dup (NEB) XP_005246668.1:n.24021+3783_24021+3786dup
XM_005246612.1:c.23571+18_23571+21dup (NEB) XP_005246669.1:n.23571+18_23571+21dup
XM_005246613.1:c.23571+18_23571+21dup (NEB) XP_005246670.1:n.23571+18_23571+21dup
XM_005246615.1:c.23928+18_23928+21dup (NEB) XP_005246672.1:n.23928+18_23928+21dup
XM_005246616.1:c.*616_*619dup (NEB) XP_005246673.1:n.*616_*619dup
XM_005246617.1:c.21384+18_21384+21dup (NEB) XP_005246674.1:n.21384+18_21384+21dup
XM_006712541.1:c.23929-1240_23929-1237dup (NEB) XP_006712604.1:n.23929-1240_23929-1237dup
XM_006712542.1:c.24021+18_24021+21dup (NEB) XP_006712605.1:n.24021+18_24021+21dup
XM_011511224.1:c.24207+18_24207+21dup (NEB) XP_011509526.1:n.24207+18_24207+21dup
XM_011511225.1:c.23743-3355_23743-3352dup (NEB) XP_011509527.1:n.23743-3355_23743-3352dup
XM_011511226.1:c.22113+18_22113+21dup (NEB) XP_011509528.1:n.22113+18_22113+21dup
XM_011511227.1:c.19926+18_19926+21dup (NEB) XP_011509529.1:n.19926+18_19926+21dup
XR_922955.1:n.7838+14273_7838+14276dup (RIF1)
XR_922956.1:n.7937-178_7937-175dup (RIF1)
XR_922957.1:n.7839-178_7839-175dup (RIF1)
XM_005246590.2:c.24207+18_24207+21dup (NEB) XP_005246647.1:n.24207+18_24207+21dup
XM_005246591.2:c.24207+18_24207+21dup (NEB) XP_005246648.1:n.24207+18_24207+21dup
XM_005246592.2:c.24300+18_24300+21dup (NEB) XP_005246649.1:n.24300+18_24300+21dup
XM_005246593.2:c.24300+18_24300+21dup (NEB) XP_005246650.1:n.24300+18_24300+21dup
XM_005246594.2:c.24207+18_24207+21dup (NEB) XP_005246651.1:n.24207+18_24207+21dup
XM_005246596.2:c.24114+18_24114+21dup (NEB) XP_005246653.1:n.24114+18_24114+21dup
XM_005246597.2:c.24300+18_24300+21dup (NEB) XP_005246654.1:n.24300+18_24300+21dup
XM_005246598.2:c.24300+18_24300+21dup (NEB) XP_005246655.1:n.24300+18_24300+21dup
XM_005246599.2:c.24021+18_24021+21dup (NEB) XP_005246656.1:n.24021+18_24021+21dup
XM_005246601.2:c.23929-575_23929-572dup (NEB) XP_005246658.1:n.23929-575_23929-572dup
XM_005246602.2:c.23928+18_23928+21dup (NEB) XP_005246659.1:n.23928+18_23928+21dup
XM_005246603.2:c.23929-1240_23929-1237dup (NEB) XP_005246660.1:n.23929-1240_23929-1237dup
XM_005246604.2:c.23929-575_23929-572dup (NEB) XP_005246661.1:n.23929-575_23929-572dup
XM_005246606.2:c.23928+18_23928+21dup (NEB) XP_005246663.1:n.23928+18_23928+21dup
XM_005246608.2:c.23929-3355_23929-3352dup (NEB) XP_005246665.1:n.23929-3355_23929-3352dup
XM_005246610.2:c.23836-3355_23836-3352dup (NEB) XP_005246667.1:n.23836-3355_23836-3352dup
XM_005246611.2:c.24021+3783_24021+3786dup (NEB) XP_005246668.1:n.24021+3783_24021+3786dup
XM_005246612.2:c.23571+18_23571+21dup (NEB) XP_005246669.1:n.23571+18_23571+21dup
XM_005246613.2:c.23571+18_23571+21dup (NEB) XP_005246670.1:n.23571+18_23571+21dup
XM_005246615.2:c.23928+18_23928+21dup (NEB) XP_005246672.1:n.23928+18_23928+21dup
XM_005246617.2:c.21384+18_21384+21dup (NEB) XP_005246674.1:n.21384+18_21384+21dup
XM_006712541.2:c.23929-1240_23929-1237dup (NEB) XP_006712604.1:n.23929-1240_23929-1237dup
XM_006712542.2:c.24021+18_24021+21dup (NEB) XP_006712605.1:n.24021+18_24021+21dup
XM_011511225.2:c.23743-3355_23743-3352dup (NEB) XP_011509527.1:n.23743-3355_23743-3352dup
XM_011511226.2:c.22113+18_22113+21dup (NEB) XP_011509528.1:n.22113+18_22113+21dup
XM_011511227.2:c.19926+18_19926+21dup (NEB) XP_011509529.1:n.19926+18_19926+21dup
XM_017004177.1:c.24189+18_24189+21dup (NEB) XP_016859666.1:n.24189+18_24189+21dup
XM_017004178.1:c.24114+18_24114+21dup (NEB) XP_016859667.1:n.24114+18_24114+21dup
XM_017004179.1:c.23836-575_23836-572dup (NEB) XP_016859668.1:n.23836-575_23836-572dup
XM_017004180.1:c.23835+18_23835+21dup (NEB) XP_016859669.1:n.23835+18_23835+21dup
XM_017004181.1:c.23836-1240_23836-1237dup (NEB) XP_016859670.1:n.23836-1240_23836-1237dup
XM_017004182.1:c.23836-1240_23836-1237dup (NEB) XP_016859671.1:n.23836-1240_23836-1237dup
XM_017004183.1:c.23836-3355_23836-3352dup (NEB) XP_016859672.1:n.23836-3355_23836-3352dup
XM_017004184.1:c.23836-1240_23836-1237dup (NEB) XP_016859673.1:n.23836-1240_23836-1237dup
XM_017004185.1:c.23743-5114_23743-5111dup (NEB) XP_016859674.1:n.23743-5114_23743-5111dup
XR_001738811.2:n.8312-178_8312-175dup (RIF1)
XR_001738812.2:n.8312-1797_8312-1794dup (RIF1)
XR_001738813.2:n.8214-178_8214-175dup (RIF1)
XR_001738814.2:n.8214-1797_8214-1794dup (RIF1)
XR_001738815.2:n.8214-5426_8214-5423dup (RIF1)
XR_001738816.2:n.8214-8602_8214-8599dup (RIF1)
XR_001738817.2:n.8213+14273_8213+14276dup (RIF1)
NM_001271208.2:c.24405+18_24405+21dup (NEB) NP_001258137.2:n.24405+18_24405+21dup
NM_004543.5:c.18826-1240_18826-1237dup (NEB) NP_004534.3:n.18826-1240_18826-1237dup
NM_001164507.2:c.24300+18_24300+21dup (NEB) MANE Plus Clinical NP_001157979.2:n.24300+18_24300+21dup
NM_001164508.2:c.24300+18_24300+21dup (NEB) MANE Select NP_001157980.2:n.24300+18_24300+21dup
Search 100 bp 5'
Search 100 bp 3'