Canonical Allele Identifier: CA2586970174
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497646_151497647insTGTT , CM000664.2:g.151497646_151497647insTGTT GRCh38
NC_000002.11:g.152354160_152354161insTGTT , CM000664.1:g.152354160_152354161insTGTT GRCh37
NC_000002.10:g.152062406_152062407insTGTT NCBI36
NG_009382.2:g.241843_241844insCAAA , LRG_202:g.241843_241844insCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5151_3075-5150insCAAA (NEB)
ENST00000688578.1:c.900-612_900-611insCAAA (NEB)
ENST00000690043.1:c.6378-3392_6378-3391insCAAA (NEB)
ENST00000693000.1:n.2657-5151_2657-5150insCAAA (NEB)
ENST00000397345.8:c.24281_24282insCAAA (NEB) MANE Select ENSP00000380505.3:p.Gln8095LysfsTer6
ENST00000427231.7:c.24281_24282insCAAA (NEB) MANE Plus Clinical ENSP00000416578.2:p.Gln8095LysfsTer6
ENST00000172853.14:c.18826-1277_18826-1276insCAAA (NEB) ENSP00000172853.10:n.18826-1277_18826-1276insCAAA
ENST00000397337.6:c.682_683insCAAA (NEB)
ENST00000397345.7:c.24281_24282insCAAA (NEB) ENSP00000380505.3:p.Gln8095LysfsTer6
ENST00000409198.5:c.18826-1277_18826-1276insCAAA (NEB) ENSP00000386259.1:n.18826-1277_18826-1276insCAAA
ENST00000413693.5:c.8026-1277_8026-1276insCAAA (NEB) ENSP00000410961.1:n.8026-1277_8026-1276insCAAA
ENST00000421461.6:c.717_718insCAAA (NEB)
ENST00000424585.1:c.610-612_610-611insCAAA (NEB) ENSP00000404876.1:n.610-612_610-611insCAAA
ENST00000427231.6:c.24281_24282insCAAA (NEB) ENSP00000416578.2:p.Gln8095LysfsTer6
ENST00000434685.5:c.1395-3392_1395-3391insCAAA (NEB)
ENST00000454583.6:c.2754-1699_2754-1698insTGTT (RIF1)
ENST00000457745.1:n.579-140_579-139insTGTT (RIF1)
ENST00000484077.1:n.353-140_353-139insTGTT (RIF1)
ENST00000498015.2:n.226-5151_226-5150insCAAA (NEB)
ENST00000603639.5:c.24281_24282insCAAA (NEB) ENSP00000473894.1:p.Gln8095LysfsTer6
ENST00000604864.5:c.24281_24282insCAAA (NEB) ENSP00000474498.1:p.Gln8095LysfsTer6
ENST00000618972.4:c.24386_24387insCAAA (NEB) ENSP00000484342.1:p.Gln8130LysfsTer6
NM_001164507.1:c.24281_24282insCAAA (NEB) NP_001157979.1:p.Gln8095LysfsTer6
NM_001164508.1:c.24281_24282insCAAA (NEB) NP_001157980.1:p.Gln8095LysfsTer6
NM_001271208.1:c.24386_24387insCAAA , LRG_202t1:c.24386_24387insCAAA (NEB) NP_001258137.1:p.Gln8130LysfsTer6
NM_004543.4:c.18826-1277_18826-1276insCAAA (NEB) NP_004534.2:n.18826-1277_18826-1276insCAAA
XM_005246590.1:c.24188_24189insCAAA (NEB) XP_005246647.1:p.Gln8064LysfsTer6
XM_005246591.1:c.24188_24189insCAAA (NEB) XP_005246648.1:p.Gln8064LysfsTer6
XM_005246592.1:c.24281_24282insCAAA (NEB) XP_005246649.1:p.Gln8095LysfsTer6
XM_005246593.1:c.24281_24282insCAAA (NEB) XP_005246650.1:p.Gln8095LysfsTer6
XM_005246594.1:c.24188_24189insCAAA (NEB) XP_005246651.1:p.Gln8064LysfsTer6
XM_005246595.1:c.24188_24189insCAAA (NEB) XP_005246652.1:p.Gln8064LysfsTer6
XM_005246596.1:c.24095_24096insCAAA (NEB) XP_005246653.1:p.Gln8033LysfsTer6
XM_005246597.1:c.24281_24282insCAAA (NEB) XP_005246654.1:p.Gln8095LysfsTer6
XM_005246598.1:c.24281_24282insCAAA (NEB) XP_005246655.1:p.Gln8095LysfsTer6
XM_005246599.1:c.24002_24003insCAAA (NEB) XP_005246656.1:p.Gln8002LysfsTer6
XM_005246600.1:c.24002_24003insCAAA (NEB) XP_005246657.1:p.Gln8002LysfsTer6
XM_005246601.1:c.23929-612_23929-611insCAAA (NEB) XP_005246658.1:n.23929-612_23929-611insCAAA
XM_005246602.1:c.23909_23910insCAAA (NEB) XP_005246659.1:p.Gln7971LysfsTer6
XM_005246603.1:c.23929-1277_23929-1276insCAAA (NEB) XP_005246660.1:n.23929-1277_23929-1276insCAAA
XM_005246604.1:c.23929-612_23929-611insCAAA (NEB) XP_005246661.1:n.23929-612_23929-611insCAAA
XM_005246606.1:c.23909_23910insCAAA (NEB) XP_005246663.1:p.Gln7971LysfsTer6
XM_005246608.1:c.23929-3392_23929-3391insCAAA (NEB) XP_005246665.1:n.23929-3392_23929-3391insCAAA
XM_005246610.1:c.23836-3392_23836-3391insCAAA (NEB) XP_005246667.1:n.23836-3392_23836-3391insCAAA
XM_005246611.1:c.24021+3746_24021+3747insCAAA (NEB) XP_005246668.1:n.24021+3746_24021+3747insCAAA
XM_005246612.1:c.23552_23553insCAAA (NEB) XP_005246669.1:p.Gln7852LysfsTer6
XM_005246613.1:c.23552_23553insCAAA (NEB) XP_005246670.1:p.Gln7852LysfsTer6
XM_005246615.1:c.23909_23910insCAAA (NEB) XP_005246672.1:p.Gln7971LysfsTer6
XM_005246616.1:c.*579_*580insCAAA (NEB) XP_005246673.1:n.*579_*580insCAAA
XM_005246617.1:c.21365_21366insCAAA (NEB) XP_005246674.1:p.Gln7123LysfsTer6
XM_006712541.1:c.23929-1277_23929-1276insCAAA (NEB) XP_006712604.1:n.23929-1277_23929-1276insCAAA
XM_006712542.1:c.24002_24003insCAAA (NEB) XP_006712605.1:p.Gln8002LysfsTer6
XM_011511224.1:c.24188_24189insCAAA (NEB) XP_011509526.1:p.Gln8064LysfsTer6
XM_011511225.1:c.23743-3392_23743-3391insCAAA (NEB) XP_011509527.1:n.23743-3392_23743-3391insCAAA
XM_011511226.1:c.22094_22095insCAAA (NEB) XP_011509528.1:p.Gln7366LysfsTer6
XM_011511227.1:c.19907_19908insCAAA (NEB) XP_011509529.1:p.Gln6637LysfsTer6
XR_922955.1:n.7838+14311_7838+14312insTGTT (RIF1)
XR_922956.1:n.7937-140_7937-139insTGTT (RIF1)
XR_922957.1:n.7839-140_7839-139insTGTT (RIF1)
XM_005246590.2:c.24188_24189insCAAA (NEB) XP_005246647.1:p.Gln8064LysfsTer6
XM_005246591.2:c.24188_24189insCAAA (NEB) XP_005246648.1:p.Gln8064LysfsTer6
XM_005246592.2:c.24281_24282insCAAA (NEB) XP_005246649.1:p.Gln8095LysfsTer6
XM_005246593.2:c.24281_24282insCAAA (NEB) XP_005246650.1:p.Gln8095LysfsTer6
XM_005246594.2:c.24188_24189insCAAA (NEB) XP_005246651.1:p.Gln8064LysfsTer6
XM_005246596.2:c.24095_24096insCAAA (NEB) XP_005246653.1:p.Gln8033LysfsTer6
XM_005246597.2:c.24281_24282insCAAA (NEB) XP_005246654.1:p.Gln8095LysfsTer6
XM_005246598.2:c.24281_24282insCAAA (NEB) XP_005246655.1:p.Gln8095LysfsTer6
XM_005246599.2:c.24002_24003insCAAA (NEB) XP_005246656.1:p.Gln8002LysfsTer6
XM_005246601.2:c.23929-612_23929-611insCAAA (NEB) XP_005246658.1:n.23929-612_23929-611insCAAA
XM_005246602.2:c.23909_23910insCAAA (NEB) XP_005246659.1:p.Gln7971LysfsTer6
XM_005246603.2:c.23929-1277_23929-1276insCAAA (NEB) XP_005246660.1:n.23929-1277_23929-1276insCAAA
XM_005246604.2:c.23929-612_23929-611insCAAA (NEB) XP_005246661.1:n.23929-612_23929-611insCAAA
XM_005246606.2:c.23909_23910insCAAA (NEB) XP_005246663.1:p.Gln7971LysfsTer6
XM_005246608.2:c.23929-3392_23929-3391insCAAA (NEB) XP_005246665.1:n.23929-3392_23929-3391insCAAA
XM_005246610.2:c.23836-3392_23836-3391insCAAA (NEB) XP_005246667.1:n.23836-3392_23836-3391insCAAA
XM_005246611.2:c.24021+3746_24021+3747insCAAA (NEB) XP_005246668.1:n.24021+3746_24021+3747insCAAA
XM_005246612.2:c.23552_23553insCAAA (NEB) XP_005246669.1:p.Gln7852LysfsTer6
XM_005246613.2:c.23552_23553insCAAA (NEB) XP_005246670.1:p.Gln7852LysfsTer6
XM_005246615.2:c.23909_23910insCAAA (NEB) XP_005246672.1:p.Gln7971LysfsTer6
XM_005246617.2:c.21365_21366insCAAA (NEB) XP_005246674.1:p.Gln7123LysfsTer6
XM_006712541.2:c.23929-1277_23929-1276insCAAA (NEB) XP_006712604.1:n.23929-1277_23929-1276insCAAA
XM_006712542.2:c.24002_24003insCAAA (NEB) XP_006712605.1:p.Gln8002LysfsTer6
XM_011511225.2:c.23743-3392_23743-3391insCAAA (NEB) XP_011509527.1:n.23743-3392_23743-3391insCAAA
XM_011511226.2:c.22094_22095insCAAA (NEB) XP_011509528.1:p.Gln7366LysfsTer6
XM_011511227.2:c.19907_19908insCAAA (NEB) XP_011509529.1:p.Gln6637LysfsTer6
XM_017004177.1:c.24170_24171insCAAA (NEB) XP_016859666.1:p.Gln8058LysfsTer6
XM_017004178.1:c.24095_24096insCAAA (NEB) XP_016859667.1:p.Gln8033LysfsTer6
XM_017004179.1:c.23836-612_23836-611insCAAA (NEB) XP_016859668.1:n.23836-612_23836-611insCAAA
XM_017004180.1:c.23816_23817insCAAA (NEB) XP_016859669.1:p.Gln7940LysfsTer6
XM_017004181.1:c.23836-1277_23836-1276insCAAA (NEB) XP_016859670.1:n.23836-1277_23836-1276insCAAA
XM_017004182.1:c.23836-1277_23836-1276insCAAA (NEB) XP_016859671.1:n.23836-1277_23836-1276insCAAA
XM_017004183.1:c.23836-3392_23836-3391insCAAA (NEB) XP_016859672.1:n.23836-3392_23836-3391insCAAA
XM_017004184.1:c.23836-1277_23836-1276insCAAA (NEB) XP_016859673.1:n.23836-1277_23836-1276insCAAA
XM_017004185.1:c.23743-5151_23743-5150insCAAA (NEB) XP_016859674.1:n.23743-5151_23743-5150insCAAA
XR_001738811.2:n.8312-140_8312-139insTGTT (RIF1)
XR_001738812.2:n.8312-1759_8312-1758insTGTT (RIF1)
XR_001738813.2:n.8214-140_8214-139insTGTT (RIF1)
XR_001738814.2:n.8214-1759_8214-1758insTGTT (RIF1)
XR_001738815.2:n.8214-5388_8214-5387insTGTT (RIF1)
XR_001738816.2:n.8214-8564_8214-8563insTGTT (RIF1)
XR_001738817.2:n.8213+14311_8213+14312insTGTT (RIF1)
NM_001271208.2:c.24386_24387insCAAA (NEB) NP_001258137.2:p.Gln8130LysfsTer6
NM_004543.5:c.18826-1277_18826-1276insCAAA (NEB) NP_004534.3:n.18826-1277_18826-1276insCAAA
NM_001164507.2:c.24281_24282insCAAA (NEB) MANE Plus Clinical NP_001157979.2:p.Gln8095LysfsTer6
NM_001164508.2:c.24281_24282insCAAA (NEB) MANE Select NP_001157980.2:p.Gln8095LysfsTer6
Search 100 bp 5'
Search 100 bp 3'