Canonical Allele Identifier: CA2577119202
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI

Linked Data

gnomAD v4: 2-151497589-TTAAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497593_151497596del , CM000664.2:g.151497593_151497596del GRCh38
NC_000002.11:g.152354107_152354110del , CM000664.1:g.152354107_152354110del GRCh37
NC_000002.10:g.152062353_152062356del NCBI36
NG_009382.2:g.241895_241898del , LRG_202:g.241895_241898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5099_3075-5096del (NEB)
ENST00000688578.1:c.900-560_900-557del (NEB)
ENST00000690043.1:c.6378-3340_6378-3337del (NEB)
ENST00000693000.1:n.2657-5099_2657-5096del (NEB)
ENST00000397345.8:c.24300+33_24300+36del (NEB) MANE Select ENSP00000380505.3:n.24300+33_24300+36del
ENST00000427231.7:c.24300+33_24300+36del (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+33_24300+36del
ENST00000172853.14:c.18826-1225_18826-1222del (NEB) ENSP00000172853.10:n.18826-1225_18826-1222del
ENST00000397337.6:c.701+33_701+36del (NEB)
ENST00000397345.7:c.24300+33_24300+36del (NEB) ENSP00000380505.3:n.24300+33_24300+36del
ENST00000409198.5:c.18826-1225_18826-1222del (NEB) ENSP00000386259.1:n.18826-1225_18826-1222del
ENST00000413693.5:c.8026-1225_8026-1222del (NEB) ENSP00000410961.1:n.8026-1225_8026-1222del
ENST00000421461.6:c.736+33_736+36del (NEB)
ENST00000424585.1:c.610-560_610-557del (NEB) ENSP00000404876.1:n.610-560_610-557del
ENST00000427231.6:c.24300+33_24300+36del (NEB) ENSP00000416578.2:n.24300+33_24300+36del
ENST00000434685.5:c.1395-3340_1395-3337del (NEB)
ENST00000454583.6:c.2754-1752_2754-1749del (RIF1)
ENST00000457745.1:n.579-193_579-190del (RIF1)
ENST00000484077.1:n.353-193_353-190del (RIF1)
ENST00000498015.2:n.226-5099_226-5096del (NEB)
ENST00000603639.5:c.24300+33_24300+36del (NEB) ENSP00000473894.1:n.24300+33_24300+36del
ENST00000604864.5:c.24300+33_24300+36del (NEB) ENSP00000474498.1:n.24300+33_24300+36del
ENST00000618972.4:c.24405+33_24405+36del (NEB) ENSP00000484342.1:n.24405+33_24405+36del
NM_001164507.1:c.24300+33_24300+36del (NEB) NP_001157979.1:n.24300+33_24300+36del
NM_001164508.1:c.24300+33_24300+36del (NEB) NP_001157980.1:n.24300+33_24300+36del
NM_001271208.1:c.24405+33_24405+36del , LRG_202t1:c.24405+33_24405+36del (NEB) NP_001258137.1:n.24405+33_24405+36del
NM_004543.4:c.18826-1225_18826-1222del (NEB) NP_004534.2:n.18826-1225_18826-1222del
XM_005246590.1:c.24207+33_24207+36del (NEB) XP_005246647.1:n.24207+33_24207+36del
XM_005246591.1:c.24207+33_24207+36del (NEB) XP_005246648.1:n.24207+33_24207+36del
XM_005246592.1:c.24300+33_24300+36del (NEB) XP_005246649.1:n.24300+33_24300+36del
XM_005246593.1:c.24300+33_24300+36del (NEB) XP_005246650.1:n.24300+33_24300+36del
XM_005246594.1:c.24207+33_24207+36del (NEB) XP_005246651.1:n.24207+33_24207+36del
XM_005246595.1:c.24207+33_24207+36del (NEB) XP_005246652.1:n.24207+33_24207+36del
XM_005246596.1:c.24114+33_24114+36del (NEB) XP_005246653.1:n.24114+33_24114+36del
XM_005246597.1:c.24300+33_24300+36del (NEB) XP_005246654.1:n.24300+33_24300+36del
XM_005246598.1:c.24300+33_24300+36del (NEB) XP_005246655.1:n.24300+33_24300+36del
XM_005246599.1:c.24021+33_24021+36del (NEB) XP_005246656.1:n.24021+33_24021+36del
XM_005246600.1:c.24021+33_24021+36del (NEB) XP_005246657.1:n.24021+33_24021+36del
XM_005246601.1:c.23929-560_23929-557del (NEB) XP_005246658.1:n.23929-560_23929-557del
XM_005246602.1:c.23928+33_23928+36del (NEB) XP_005246659.1:n.23928+33_23928+36del
XM_005246603.1:c.23929-1225_23929-1222del (NEB) XP_005246660.1:n.23929-1225_23929-1222del
XM_005246604.1:c.23929-560_23929-557del (NEB) XP_005246661.1:n.23929-560_23929-557del
XM_005246606.1:c.23928+33_23928+36del (NEB) XP_005246663.1:n.23928+33_23928+36del
XM_005246608.1:c.23929-3340_23929-3337del (NEB) XP_005246665.1:n.23929-3340_23929-3337del
XM_005246610.1:c.23836-3340_23836-3337del (NEB) XP_005246667.1:n.23836-3340_23836-3337del
XM_005246611.1:c.24021+3798_24021+3801del (NEB) XP_005246668.1:n.24021+3798_24021+3801del
XM_005246612.1:c.23571+33_23571+36del (NEB) XP_005246669.1:n.23571+33_23571+36del
XM_005246613.1:c.23571+33_23571+36del (NEB) XP_005246670.1:n.23571+33_23571+36del
XM_005246615.1:c.23928+33_23928+36del (NEB) XP_005246672.1:n.23928+33_23928+36del
XM_005246616.1:c.*631_*634del (NEB) XP_005246673.1:n.*631_*634del
XM_005246617.1:c.21384+33_21384+36del (NEB) XP_005246674.1:n.21384+33_21384+36del
XM_006712541.1:c.23929-1225_23929-1222del (NEB) XP_006712604.1:n.23929-1225_23929-1222del
XM_006712542.1:c.24021+33_24021+36del (NEB) XP_006712605.1:n.24021+33_24021+36del
XM_011511224.1:c.24207+33_24207+36del (NEB) XP_011509526.1:n.24207+33_24207+36del
XM_011511225.1:c.23743-3340_23743-3337del (NEB) XP_011509527.1:n.23743-3340_23743-3337del
XM_011511226.1:c.22113+33_22113+36del (NEB) XP_011509528.1:n.22113+33_22113+36del
XM_011511227.1:c.19926+33_19926+36del (NEB) XP_011509529.1:n.19926+33_19926+36del
XR_922955.1:n.7838+14258_7838+14261del (RIF1)
XR_922956.1:n.7937-193_7937-190del (RIF1)
XR_922957.1:n.7839-193_7839-190del (RIF1)
XM_005246590.2:c.24207+33_24207+36del (NEB) XP_005246647.1:n.24207+33_24207+36del
XM_005246591.2:c.24207+33_24207+36del (NEB) XP_005246648.1:n.24207+33_24207+36del
XM_005246592.2:c.24300+33_24300+36del (NEB) XP_005246649.1:n.24300+33_24300+36del
XM_005246593.2:c.24300+33_24300+36del (NEB) XP_005246650.1:n.24300+33_24300+36del
XM_005246594.2:c.24207+33_24207+36del (NEB) XP_005246651.1:n.24207+33_24207+36del
XM_005246596.2:c.24114+33_24114+36del (NEB) XP_005246653.1:n.24114+33_24114+36del
XM_005246597.2:c.24300+33_24300+36del (NEB) XP_005246654.1:n.24300+33_24300+36del
XM_005246598.2:c.24300+33_24300+36del (NEB) XP_005246655.1:n.24300+33_24300+36del
XM_005246599.2:c.24021+33_24021+36del (NEB) XP_005246656.1:n.24021+33_24021+36del
XM_005246601.2:c.23929-560_23929-557del (NEB) XP_005246658.1:n.23929-560_23929-557del
XM_005246602.2:c.23928+33_23928+36del (NEB) XP_005246659.1:n.23928+33_23928+36del
XM_005246603.2:c.23929-1225_23929-1222del (NEB) XP_005246660.1:n.23929-1225_23929-1222del
XM_005246604.2:c.23929-560_23929-557del (NEB) XP_005246661.1:n.23929-560_23929-557del
XM_005246606.2:c.23928+33_23928+36del (NEB) XP_005246663.1:n.23928+33_23928+36del
XM_005246608.2:c.23929-3340_23929-3337del (NEB) XP_005246665.1:n.23929-3340_23929-3337del
XM_005246610.2:c.23836-3340_23836-3337del (NEB) XP_005246667.1:n.23836-3340_23836-3337del
XM_005246611.2:c.24021+3798_24021+3801del (NEB) XP_005246668.1:n.24021+3798_24021+3801del
XM_005246612.2:c.23571+33_23571+36del (NEB) XP_005246669.1:n.23571+33_23571+36del
XM_005246613.2:c.23571+33_23571+36del (NEB) XP_005246670.1:n.23571+33_23571+36del
XM_005246615.2:c.23928+33_23928+36del (NEB) XP_005246672.1:n.23928+33_23928+36del
XM_005246617.2:c.21384+33_21384+36del (NEB) XP_005246674.1:n.21384+33_21384+36del
XM_006712541.2:c.23929-1225_23929-1222del (NEB) XP_006712604.1:n.23929-1225_23929-1222del
XM_006712542.2:c.24021+33_24021+36del (NEB) XP_006712605.1:n.24021+33_24021+36del
XM_011511225.2:c.23743-3340_23743-3337del (NEB) XP_011509527.1:n.23743-3340_23743-3337del
XM_011511226.2:c.22113+33_22113+36del (NEB) XP_011509528.1:n.22113+33_22113+36del
XM_011511227.2:c.19926+33_19926+36del (NEB) XP_011509529.1:n.19926+33_19926+36del
XM_017004177.1:c.24189+33_24189+36del (NEB) XP_016859666.1:n.24189+33_24189+36del
XM_017004178.1:c.24114+33_24114+36del (NEB) XP_016859667.1:n.24114+33_24114+36del
XM_017004179.1:c.23836-560_23836-557del (NEB) XP_016859668.1:n.23836-560_23836-557del
XM_017004180.1:c.23835+33_23835+36del (NEB) XP_016859669.1:n.23835+33_23835+36del
XM_017004181.1:c.23836-1225_23836-1222del (NEB) XP_016859670.1:n.23836-1225_23836-1222del
XM_017004182.1:c.23836-1225_23836-1222del (NEB) XP_016859671.1:n.23836-1225_23836-1222del
XM_017004183.1:c.23836-3340_23836-3337del (NEB) XP_016859672.1:n.23836-3340_23836-3337del
XM_017004184.1:c.23836-1225_23836-1222del (NEB) XP_016859673.1:n.23836-1225_23836-1222del
XM_017004185.1:c.23743-5099_23743-5096del (NEB) XP_016859674.1:n.23743-5099_23743-5096del
XR_001738811.2:n.8312-193_8312-190del (RIF1)
XR_001738812.2:n.8312-1812_8312-1809del (RIF1)
XR_001738813.2:n.8214-193_8214-190del (RIF1)
XR_001738814.2:n.8214-1812_8214-1809del (RIF1)
XR_001738815.2:n.8214-5441_8214-5438del (RIF1)
XR_001738816.2:n.8214-8617_8214-8614del (RIF1)
XR_001738817.2:n.8213+14258_8213+14261del (RIF1)
NM_001271208.2:c.24405+33_24405+36del (NEB) NP_001258137.2:n.24405+33_24405+36del
NM_004543.5:c.18826-1225_18826-1222del (NEB) NP_004534.3:n.18826-1225_18826-1222del
NM_001164507.2:c.24300+33_24300+36del (NEB) MANE Plus Clinical NP_001157979.2:n.24300+33_24300+36del
NM_001164508.2:c.24300+33_24300+36del (NEB) MANE Select NP_001157980.2:n.24300+33_24300+36del
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