Canonical Allele Identifier: CA758871513
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI

Linked Data

dbSNP Id: rs1414126393
gnomAD v3: 2-151497523-TTTAAG-T
gnomAD v4: 2-151497523-TTTAAG-T
MyVariant Identifiers: chr2:g.152354038_152354042del (hg19) chr2:g.151497524_151497528del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151497526_151497530del , CM000664.2:g.151497526_151497530del GRCh38
NC_000002.11:g.152354040_152354044del , CM000664.1:g.152354040_152354044del GRCh37
NC_000002.10:g.152062286_152062290del NCBI36
NG_009382.2:g.241960_241964del , LRG_202:g.241960_241964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3075-5034_3075-5030del (NEB)
ENST00000688578.1:c.900-495_900-491del (NEB)
ENST00000690043.1:c.6378-3275_6378-3271del (NEB)
ENST00000693000.1:n.2657-5034_2657-5030del (NEB)
ENST00000397345.8:c.24300+98_24300+102del (NEB) MANE Select ENSP00000380505.3:n.24300+98_24300+102del
ENST00000427231.7:c.24300+98_24300+102del (NEB) MANE Plus Clinical ENSP00000416578.2:n.24300+98_24300+102del
ENST00000172853.14:c.18826-1160_18826-1156del (NEB) ENSP00000172853.10:n.18826-1160_18826-1156del
ENST00000397337.6:c.701+98_701+102del (NEB)
ENST00000397345.7:c.24300+98_24300+102del (NEB) ENSP00000380505.3:n.24300+98_24300+102del
ENST00000409198.5:c.18826-1160_18826-1156del (NEB) ENSP00000386259.1:n.18826-1160_18826-1156del
ENST00000413693.5:c.8026-1160_8026-1156del (NEB) ENSP00000410961.1:n.8026-1160_8026-1156del
ENST00000421461.6:c.736+98_736+102del (NEB)
ENST00000424585.1:c.610-495_610-491del (NEB) ENSP00000404876.1:n.610-495_610-491del
ENST00000427231.6:c.24300+98_24300+102del (NEB) ENSP00000416578.2:n.24300+98_24300+102del
ENST00000434685.5:c.1395-3275_1395-3271del (NEB)
ENST00000454583.6:c.2754-1819_2754-1815del (RIF1)
ENST00000457745.1:n.579-260_579-256del (RIF1)
ENST00000484077.1:n.353-260_353-256del (RIF1)
ENST00000498015.2:n.226-5034_226-5030del (NEB)
ENST00000603639.5:c.24300+98_24300+102del (NEB) ENSP00000473894.1:n.24300+98_24300+102del
ENST00000604864.5:c.24300+98_24300+102del (NEB) ENSP00000474498.1:n.24300+98_24300+102del
ENST00000618972.4:c.24405+98_24405+102del (NEB) ENSP00000484342.1:n.24405+98_24405+102del
NM_001164507.1:c.24300+98_24300+102del (NEB) NP_001157979.1:n.24300+98_24300+102del
NM_001164508.1:c.24300+98_24300+102del (NEB) NP_001157980.1:n.24300+98_24300+102del
NM_001271208.1:c.24405+98_24405+102del , LRG_202t1:c.24405+98_24405+102del (NEB) NP_001258137.1:n.24405+98_24405+102del
NM_004543.4:c.18826-1160_18826-1156del (NEB) NP_004534.2:n.18826-1160_18826-1156del
XM_005246590.1:c.24207+98_24207+102del (NEB) XP_005246647.1:n.24207+98_24207+102del
XM_005246591.1:c.24207+98_24207+102del (NEB) XP_005246648.1:n.24207+98_24207+102del
XM_005246592.1:c.24300+98_24300+102del (NEB) XP_005246649.1:n.24300+98_24300+102del
XM_005246593.1:c.24300+98_24300+102del (NEB) XP_005246650.1:n.24300+98_24300+102del
XM_005246594.1:c.24207+98_24207+102del (NEB) XP_005246651.1:n.24207+98_24207+102del
XM_005246595.1:c.24207+98_24207+102del (NEB) XP_005246652.1:n.24207+98_24207+102del
XM_005246596.1:c.24114+98_24114+102del (NEB) XP_005246653.1:n.24114+98_24114+102del
XM_005246597.1:c.24300+98_24300+102del (NEB) XP_005246654.1:n.24300+98_24300+102del
XM_005246598.1:c.24300+98_24300+102del (NEB) XP_005246655.1:n.24300+98_24300+102del
XM_005246599.1:c.24021+98_24021+102del (NEB) XP_005246656.1:n.24021+98_24021+102del
XM_005246600.1:c.24021+98_24021+102del (NEB) XP_005246657.1:n.24021+98_24021+102del
XM_005246601.1:c.23929-495_23929-491del (NEB) XP_005246658.1:n.23929-495_23929-491del
XM_005246602.1:c.23928+98_23928+102del (NEB) XP_005246659.1:n.23928+98_23928+102del
XM_005246603.1:c.23929-1160_23929-1156del (NEB) XP_005246660.1:n.23929-1160_23929-1156del
XM_005246604.1:c.23929-495_23929-491del (NEB) XP_005246661.1:n.23929-495_23929-491del
XM_005246606.1:c.23928+98_23928+102del (NEB) XP_005246663.1:n.23928+98_23928+102del
XM_005246608.1:c.23929-3275_23929-3271del (NEB) XP_005246665.1:n.23929-3275_23929-3271del
XM_005246610.1:c.23836-3275_23836-3271del (NEB) XP_005246667.1:n.23836-3275_23836-3271del
XM_005246611.1:c.24021+3863_24021+3867del (NEB) XP_005246668.1:n.24021+3863_24021+3867del
XM_005246612.1:c.23571+98_23571+102del (NEB) XP_005246669.1:n.23571+98_23571+102del
XM_005246613.1:c.23571+98_23571+102del (NEB) XP_005246670.1:n.23571+98_23571+102del
XM_005246615.1:c.23928+98_23928+102del (NEB) XP_005246672.1:n.23928+98_23928+102del
XM_005246616.1:c.*696_*700del (NEB) XP_005246673.1:n.*696_*700del
XM_005246617.1:c.21384+98_21384+102del (NEB) XP_005246674.1:n.21384+98_21384+102del
XM_006712541.1:c.23929-1160_23929-1156del (NEB) XP_006712604.1:n.23929-1160_23929-1156del
XM_006712542.1:c.24021+98_24021+102del (NEB) XP_006712605.1:n.24021+98_24021+102del
XM_011511224.1:c.24207+98_24207+102del (NEB) XP_011509526.1:n.24207+98_24207+102del
XM_011511225.1:c.23743-3275_23743-3271del (NEB) XP_011509527.1:n.23743-3275_23743-3271del
XM_011511226.1:c.22113+98_22113+102del (NEB) XP_011509528.1:n.22113+98_22113+102del
XM_011511227.1:c.19926+98_19926+102del (NEB) XP_011509529.1:n.19926+98_19926+102del
XR_922955.1:n.7838+14191_7838+14195del (RIF1)
XR_922956.1:n.7937-260_7937-256del (RIF1)
XR_922957.1:n.7839-260_7839-256del (RIF1)
XM_005246590.2:c.24207+98_24207+102del (NEB) XP_005246647.1:n.24207+98_24207+102del
XM_005246591.2:c.24207+98_24207+102del (NEB) XP_005246648.1:n.24207+98_24207+102del
XM_005246592.2:c.24300+98_24300+102del (NEB) XP_005246649.1:n.24300+98_24300+102del
XM_005246593.2:c.24300+98_24300+102del (NEB) XP_005246650.1:n.24300+98_24300+102del
XM_005246594.2:c.24207+98_24207+102del (NEB) XP_005246651.1:n.24207+98_24207+102del
XM_005246596.2:c.24114+98_24114+102del (NEB) XP_005246653.1:n.24114+98_24114+102del
XM_005246597.2:c.24300+98_24300+102del (NEB) XP_005246654.1:n.24300+98_24300+102del
XM_005246598.2:c.24300+98_24300+102del (NEB) XP_005246655.1:n.24300+98_24300+102del
XM_005246599.2:c.24021+98_24021+102del (NEB) XP_005246656.1:n.24021+98_24021+102del
XM_005246601.2:c.23929-495_23929-491del (NEB) XP_005246658.1:n.23929-495_23929-491del
XM_005246602.2:c.23928+98_23928+102del (NEB) XP_005246659.1:n.23928+98_23928+102del
XM_005246603.2:c.23929-1160_23929-1156del (NEB) XP_005246660.1:n.23929-1160_23929-1156del
XM_005246604.2:c.23929-495_23929-491del (NEB) XP_005246661.1:n.23929-495_23929-491del
XM_005246606.2:c.23928+98_23928+102del (NEB) XP_005246663.1:n.23928+98_23928+102del
XM_005246608.2:c.23929-3275_23929-3271del (NEB) XP_005246665.1:n.23929-3275_23929-3271del
XM_005246610.2:c.23836-3275_23836-3271del (NEB) XP_005246667.1:n.23836-3275_23836-3271del
XM_005246611.2:c.24021+3863_24021+3867del (NEB) XP_005246668.1:n.24021+3863_24021+3867del
XM_005246612.2:c.23571+98_23571+102del (NEB) XP_005246669.1:n.23571+98_23571+102del
XM_005246613.2:c.23571+98_23571+102del (NEB) XP_005246670.1:n.23571+98_23571+102del
XM_005246615.2:c.23928+98_23928+102del (NEB) XP_005246672.1:n.23928+98_23928+102del
XM_005246617.2:c.21384+98_21384+102del (NEB) XP_005246674.1:n.21384+98_21384+102del
XM_006712541.2:c.23929-1160_23929-1156del (NEB) XP_006712604.1:n.23929-1160_23929-1156del
XM_006712542.2:c.24021+98_24021+102del (NEB) XP_006712605.1:n.24021+98_24021+102del
XM_011511225.2:c.23743-3275_23743-3271del (NEB) XP_011509527.1:n.23743-3275_23743-3271del
XM_011511226.2:c.22113+98_22113+102del (NEB) XP_011509528.1:n.22113+98_22113+102del
XM_011511227.2:c.19926+98_19926+102del (NEB) XP_011509529.1:n.19926+98_19926+102del
XM_017004177.1:c.24189+98_24189+102del (NEB) XP_016859666.1:n.24189+98_24189+102del
XM_017004178.1:c.24114+98_24114+102del (NEB) XP_016859667.1:n.24114+98_24114+102del
XM_017004179.1:c.23836-495_23836-491del (NEB) XP_016859668.1:n.23836-495_23836-491del
XM_017004180.1:c.23835+98_23835+102del (NEB) XP_016859669.1:n.23835+98_23835+102del
XM_017004181.1:c.23836-1160_23836-1156del (NEB) XP_016859670.1:n.23836-1160_23836-1156del
XM_017004182.1:c.23836-1160_23836-1156del (NEB) XP_016859671.1:n.23836-1160_23836-1156del
XM_017004183.1:c.23836-3275_23836-3271del (NEB) XP_016859672.1:n.23836-3275_23836-3271del
XM_017004184.1:c.23836-1160_23836-1156del (NEB) XP_016859673.1:n.23836-1160_23836-1156del
XM_017004185.1:c.23743-5034_23743-5030del (NEB) XP_016859674.1:n.23743-5034_23743-5030del
XR_001738811.2:n.8312-260_8312-256del (RIF1)
XR_001738812.2:n.8312-1879_8312-1875del (RIF1)
XR_001738813.2:n.8214-260_8214-256del (RIF1)
XR_001738814.2:n.8214-1879_8214-1875del (RIF1)
XR_001738815.2:n.8214-5508_8214-5504del (RIF1)
XR_001738816.2:n.8214-8684_8214-8680del (RIF1)
XR_001738817.2:n.8213+14191_8213+14195del (RIF1)
NM_001271208.2:c.24405+98_24405+102del (NEB) NP_001258137.2:n.24405+98_24405+102del
NM_004543.5:c.18826-1160_18826-1156del (NEB) NP_004534.3:n.18826-1160_18826-1156del
NM_001164507.2:c.24300+98_24300+102del (NEB) MANE Plus Clinical NP_001157979.2:n.24300+98_24300+102del
NM_001164508.2:c.24300+98_24300+102del (NEB) MANE Select NP_001157980.2:n.24300+98_24300+102del
Search 100 bp 5'
Search 100 bp 3'