Canonical Allele Identifier: CA1298151622
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497599_151497600delinsAG , CM000664.2:g.151497599_151497600delinsAG GRCh38
NC_000002.11:g.152354113_152354114delinsAG , CM000664.1:g.152354113_152354114delinsAG GRCh37
NC_000002.10:g.152062359_152062360delinsAG NCBI36
NG_009382.2:g.241888_241889delinsCT , LRG_202:g.241888_241889delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5106_3075-5105delinsCT (NEB)
ENST00000688578.1:c.900-567_900-566delinsCT (NEB)
ENST00000690043.1:c.6378-3347_6378-3346delinsCT (NEB)
ENST00000693000.1:n.2657-5106_2657-5105delinsCT (NEB)
ENST00000397345.8:c.24300+26_24300+27delinsCT (NEB) MANE Select ENSP00000380505.3:n.24300+26_24300+27delinsCT
ENST00000427231.7:c.24300+26_24300+27delinsCT (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+26_24300+27delinsCT
ENST00000172853.14:c.18826-1232_18826-1231delinsCT (NEB) ENSP00000172853.10:n.18826-1232_18826-1231delinsCT
ENST00000397337.6:c.701+26_701+27delinsCT (NEB)
ENST00000397345.7:c.24300+26_24300+27delinsCT (NEB) ENSP00000380505.3:n.24300+26_24300+27delinsCT
ENST00000409198.5:c.18826-1232_18826-1231delinsCT (NEB) ENSP00000386259.1:n.18826-1232_18826-1231delinsCT
ENST00000413693.5:c.8026-1232_8026-1231delinsCT (NEB) ENSP00000410961.1:n.8026-1232_8026-1231delinsCT
ENST00000421461.6:c.736+26_736+27delinsCT (NEB)
ENST00000424585.1:c.610-567_610-566delinsCT (NEB) ENSP00000404876.1:n.610-567_610-566delinsCT
ENST00000427231.6:c.24300+26_24300+27delinsCT (NEB) ENSP00000416578.2:n.24300+26_24300+27delinsCT
ENST00000434685.5:c.1395-3347_1395-3346delinsCT (NEB)
ENST00000454583.6:c.2754-1746_2754-1745delinsAG (RIF1)
ENST00000457745.1:n.579-187_579-186delinsAG (RIF1)
ENST00000484077.1:n.353-187_353-186delinsAG (RIF1)
ENST00000498015.2:n.226-5106_226-5105delinsCT (NEB)
ENST00000603639.5:c.24300+26_24300+27delinsCT (NEB) ENSP00000473894.1:n.24300+26_24300+27delinsCT
ENST00000604864.5:c.24300+26_24300+27delinsCT (NEB) ENSP00000474498.1:n.24300+26_24300+27delinsCT
ENST00000618972.4:c.24405+26_24405+27delinsCT (NEB) ENSP00000484342.1:n.24405+26_24405+27delinsCT
NM_001164507.1:c.24300+26_24300+27delinsCT (NEB) NP_001157979.1:n.24300+26_24300+27delinsCT
NM_001164508.1:c.24300+26_24300+27delinsCT (NEB) NP_001157980.1:n.24300+26_24300+27delinsCT
NM_001271208.1:c.24405+26_24405+27delinsCT , LRG_202t1:c.24405+26_24405+27delinsCT (NEB) NP_001258137.1:n.24405+26_24405+27delinsCT
NM_004543.4:c.18826-1232_18826-1231delinsCT (NEB) NP_004534.2:n.18826-1232_18826-1231delinsCT
XM_005246590.1:c.24207+26_24207+27delinsCT (NEB) XP_005246647.1:n.24207+26_24207+27delinsCT
XM_005246591.1:c.24207+26_24207+27delinsCT (NEB) XP_005246648.1:n.24207+26_24207+27delinsCT
XM_005246592.1:c.24300+26_24300+27delinsCT (NEB) XP_005246649.1:n.24300+26_24300+27delinsCT
XM_005246593.1:c.24300+26_24300+27delinsCT (NEB) XP_005246650.1:n.24300+26_24300+27delinsCT
XM_005246594.1:c.24207+26_24207+27delinsCT (NEB) XP_005246651.1:n.24207+26_24207+27delinsCT
XM_005246595.1:c.24207+26_24207+27delinsCT (NEB) XP_005246652.1:n.24207+26_24207+27delinsCT
XM_005246596.1:c.24114+26_24114+27delinsCT (NEB) XP_005246653.1:n.24114+26_24114+27delinsCT
XM_005246597.1:c.24300+26_24300+27delinsCT (NEB) XP_005246654.1:n.24300+26_24300+27delinsCT
XM_005246598.1:c.24300+26_24300+27delinsCT (NEB) XP_005246655.1:n.24300+26_24300+27delinsCT
XM_005246599.1:c.24021+26_24021+27delinsCT (NEB) XP_005246656.1:n.24021+26_24021+27delinsCT
XM_005246600.1:c.24021+26_24021+27delinsCT (NEB) XP_005246657.1:n.24021+26_24021+27delinsCT
XM_005246601.1:c.23929-567_23929-566delinsCT (NEB) XP_005246658.1:n.23929-567_23929-566delinsCT
XM_005246602.1:c.23928+26_23928+27delinsCT (NEB) XP_005246659.1:n.23928+26_23928+27delinsCT
XM_005246603.1:c.23929-1232_23929-1231delinsCT (NEB) XP_005246660.1:n.23929-1232_23929-1231delinsCT
XM_005246604.1:c.23929-567_23929-566delinsCT (NEB) XP_005246661.1:n.23929-567_23929-566delinsCT
XM_005246606.1:c.23928+26_23928+27delinsCT (NEB) XP_005246663.1:n.23928+26_23928+27delinsCT
XM_005246608.1:c.23929-3347_23929-3346delinsCT (NEB) XP_005246665.1:n.23929-3347_23929-3346delinsCT
XM_005246610.1:c.23836-3347_23836-3346delinsCT (NEB) XP_005246667.1:n.23836-3347_23836-3346delinsCT
XM_005246611.1:c.24021+3791_24021+3792delinsCT (NEB) XP_005246668.1:n.24021+3791_24021+3792delinsCT
XM_005246612.1:c.23571+26_23571+27delinsCT (NEB) XP_005246669.1:n.23571+26_23571+27delinsCT
XM_005246613.1:c.23571+26_23571+27delinsCT (NEB) XP_005246670.1:n.23571+26_23571+27delinsCT
XM_005246615.1:c.23928+26_23928+27delinsCT (NEB) XP_005246672.1:n.23928+26_23928+27delinsCT
XM_005246616.1:c.*624_*625delinsCT (NEB) XP_005246673.1:n.*624_*625delinsCT
XM_005246617.1:c.21384+26_21384+27delinsCT (NEB) XP_005246674.1:n.21384+26_21384+27delinsCT
XM_006712541.1:c.23929-1232_23929-1231delinsCT (NEB) XP_006712604.1:n.23929-1232_23929-1231delinsCT
XM_006712542.1:c.24021+26_24021+27delinsCT (NEB) XP_006712605.1:n.24021+26_24021+27delinsCT
XM_011511224.1:c.24207+26_24207+27delinsCT (NEB) XP_011509526.1:n.24207+26_24207+27delinsCT
XM_011511225.1:c.23743-3347_23743-3346delinsCT (NEB) XP_011509527.1:n.23743-3347_23743-3346delinsCT
XM_011511226.1:c.22113+26_22113+27delinsCT (NEB) XP_011509528.1:n.22113+26_22113+27delinsCT
XM_011511227.1:c.19926+26_19926+27delinsCT (NEB) XP_011509529.1:n.19926+26_19926+27delinsCT
XR_922955.1:n.7838+14264_7838+14265delinsAG (RIF1)
XR_922956.1:n.7937-187_7937-186delinsAG (RIF1)
XR_922957.1:n.7839-187_7839-186delinsAG (RIF1)
XM_005246590.2:c.24207+26_24207+27delinsCT (NEB) XP_005246647.1:n.24207+26_24207+27delinsCT
XM_005246591.2:c.24207+26_24207+27delinsCT (NEB) XP_005246648.1:n.24207+26_24207+27delinsCT
XM_005246592.2:c.24300+26_24300+27delinsCT (NEB) XP_005246649.1:n.24300+26_24300+27delinsCT
XM_005246593.2:c.24300+26_24300+27delinsCT (NEB) XP_005246650.1:n.24300+26_24300+27delinsCT
XM_005246594.2:c.24207+26_24207+27delinsCT (NEB) XP_005246651.1:n.24207+26_24207+27delinsCT
XM_005246596.2:c.24114+26_24114+27delinsCT (NEB) XP_005246653.1:n.24114+26_24114+27delinsCT
XM_005246597.2:c.24300+26_24300+27delinsCT (NEB) XP_005246654.1:n.24300+26_24300+27delinsCT
XM_005246598.2:c.24300+26_24300+27delinsCT (NEB) XP_005246655.1:n.24300+26_24300+27delinsCT
XM_005246599.2:c.24021+26_24021+27delinsCT (NEB) XP_005246656.1:n.24021+26_24021+27delinsCT
XM_005246601.2:c.23929-567_23929-566delinsCT (NEB) XP_005246658.1:n.23929-567_23929-566delinsCT
XM_005246602.2:c.23928+26_23928+27delinsCT (NEB) XP_005246659.1:n.23928+26_23928+27delinsCT
XM_005246603.2:c.23929-1232_23929-1231delinsCT (NEB) XP_005246660.1:n.23929-1232_23929-1231delinsCT
XM_005246604.2:c.23929-567_23929-566delinsCT (NEB) XP_005246661.1:n.23929-567_23929-566delinsCT
XM_005246606.2:c.23928+26_23928+27delinsCT (NEB) XP_005246663.1:n.23928+26_23928+27delinsCT
XM_005246608.2:c.23929-3347_23929-3346delinsCT (NEB) XP_005246665.1:n.23929-3347_23929-3346delinsCT
XM_005246610.2:c.23836-3347_23836-3346delinsCT (NEB) XP_005246667.1:n.23836-3347_23836-3346delinsCT
XM_005246611.2:c.24021+3791_24021+3792delinsCT (NEB) XP_005246668.1:n.24021+3791_24021+3792delinsCT
XM_005246612.2:c.23571+26_23571+27delinsCT (NEB) XP_005246669.1:n.23571+26_23571+27delinsCT
XM_005246613.2:c.23571+26_23571+27delinsCT (NEB) XP_005246670.1:n.23571+26_23571+27delinsCT
XM_005246615.2:c.23928+26_23928+27delinsCT (NEB) XP_005246672.1:n.23928+26_23928+27delinsCT
XM_005246617.2:c.21384+26_21384+27delinsCT (NEB) XP_005246674.1:n.21384+26_21384+27delinsCT
XM_006712541.2:c.23929-1232_23929-1231delinsCT (NEB) XP_006712604.1:n.23929-1232_23929-1231delinsCT
XM_006712542.2:c.24021+26_24021+27delinsCT (NEB) XP_006712605.1:n.24021+26_24021+27delinsCT
XM_011511225.2:c.23743-3347_23743-3346delinsCT (NEB) XP_011509527.1:n.23743-3347_23743-3346delinsCT
XM_011511226.2:c.22113+26_22113+27delinsCT (NEB) XP_011509528.1:n.22113+26_22113+27delinsCT
XM_011511227.2:c.19926+26_19926+27delinsCT (NEB) XP_011509529.1:n.19926+26_19926+27delinsCT
XM_017004177.1:c.24189+26_24189+27delinsCT (NEB) XP_016859666.1:n.24189+26_24189+27delinsCT
XM_017004178.1:c.24114+26_24114+27delinsCT (NEB) XP_016859667.1:n.24114+26_24114+27delinsCT
XM_017004179.1:c.23836-567_23836-566delinsCT (NEB) XP_016859668.1:n.23836-567_23836-566delinsCT
XM_017004180.1:c.23835+26_23835+27delinsCT (NEB) XP_016859669.1:n.23835+26_23835+27delinsCT
XM_017004181.1:c.23836-1232_23836-1231delinsCT (NEB) XP_016859670.1:n.23836-1232_23836-1231delinsCT
XM_017004182.1:c.23836-1232_23836-1231delinsCT (NEB) XP_016859671.1:n.23836-1232_23836-1231delinsCT
XM_017004183.1:c.23836-3347_23836-3346delinsCT (NEB) XP_016859672.1:n.23836-3347_23836-3346delinsCT
XM_017004184.1:c.23836-1232_23836-1231delinsCT (NEB) XP_016859673.1:n.23836-1232_23836-1231delinsCT
XM_017004185.1:c.23743-5106_23743-5105delinsCT (NEB) XP_016859674.1:n.23743-5106_23743-5105delinsCT
XR_001738811.2:n.8312-187_8312-186delinsAG (RIF1)
XR_001738812.2:n.8312-1806_8312-1805delinsAG (RIF1)
XR_001738813.2:n.8214-187_8214-186delinsAG (RIF1)
XR_001738814.2:n.8214-1806_8214-1805delinsAG (RIF1)
XR_001738815.2:n.8214-5435_8214-5434delinsAG (RIF1)
XR_001738816.2:n.8214-8611_8214-8610delinsAG (RIF1)
XR_001738817.2:n.8213+14264_8213+14265delinsAG (RIF1)
NM_001271208.2:c.24405+26_24405+27delinsCT (NEB) NP_001258137.2:n.24405+26_24405+27delinsCT
NM_004543.5:c.18826-1232_18826-1231delinsCT (NEB) NP_004534.3:n.18826-1232_18826-1231delinsCT
NM_001164507.2:c.24300+26_24300+27delinsCT (NEB) MANE Plus Clinical NP_001157979.2:n.24300+26_24300+27delinsCT
NM_001164508.2:c.24300+26_24300+27delinsCT (NEB) MANE Select NP_001157980.2:n.24300+26_24300+27delinsCT
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