Canonical Allele Identifier: CA891842684
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151490465_151490466delinsCA , CM000664.2:g.151490465_151490466delinsCA GRCh38
NC_000002.11:g.152346979_152346980delinsCA , CM000664.1:g.152346979_152346980delinsCA GRCh37
NC_000002.10:g.152055225_152055226delinsCA NCBI36
NG_009382.2:g.249022_249023delinsTG , LRG_202:g.249022_249023delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000434685.6:c.3512_3513delinsTG (NEB)
ENST00000688578.1:c.1802_1803delinsTG (NEB)
ENST00000689642.1:n.1022_1023delinsTG (NEB)
ENST00000690043.1:c.6908_6909delinsTG (NEB)
ENST00000693000.1:n.3094_3095delinsTG (NEB)
ENST00000397345.8:c.25203_25204delinsTG (NEB) MANE Select ENSP00000380505.3:p.Ile8402Val
ENST00000427231.7:c.25203_25204delinsTG (NEB) MANE Plus Clinical ENSP00000416578.2:p.Ile8402Val
ENST00000172853.14:c.19635_19636delinsTG (NEB) ENSP00000172853.10:p.Ile6546Val
ENST00000397337.6:c.1604_1605delinsTG (NEB)
ENST00000397345.7:c.25203_25204delinsTG (NEB) ENSP00000380505.3:p.Ile8402Val
ENST00000409198.5:c.19635_19636delinsTG (NEB) ENSP00000386259.1:p.Ile6546Val
ENST00000413693.5:c.8649_8650delinsTG (NEB) ENSP00000410961.1:p.Ile2884Val
ENST00000427231.6:c.25203_25204delinsTG (NEB) ENSP00000416578.2:p.Ile8402Val
ENST00000434685.5:c.1925_1926delinsTG (NEB)
ENST00000454583.6:c.2656-4764_2656-4763delinsCA (RIF1)
ENST00000457745.1:n.480+3709_480+3710delinsCA (RIF1)
ENST00000603639.5:c.25203_25204delinsTG (NEB) ENSP00000473894.1:p.Ile8402Val
ENST00000604864.5:c.25203_25204delinsTG (NEB) ENSP00000474498.1:p.Ile8402Val
ENST00000618972.4:c.25308_25309delinsTG (NEB) ENSP00000484342.1:p.Ile8437Val
NM_001164507.1:c.25203_25204delinsTG (NEB) NP_001157979.1:p.Ile8402Val
NM_001164508.1:c.25203_25204delinsTG (NEB) NP_001157980.1:p.Ile8402Val
NM_001271208.1:c.25308_25309delinsTG , LRG_202t1:c.25308_25309delinsTG (NEB) NP_001258137.1:p.Ile8437Val
NM_004543.4:c.19635_19636delinsTG (NEB) NP_004534.2:p.Ile6546Val
XM_005246590.1:c.25110_25111delinsTG (NEB) XP_005246647.1:p.Ile8371Val
XM_005246591.1:c.25110_25111delinsTG (NEB) XP_005246648.1:p.Ile8371Val
XM_005246592.1:c.25110_25111delinsTG (NEB) XP_005246649.1:p.Ile8371Val
XM_005246593.1:c.25110_25111delinsTG (NEB) XP_005246650.1:p.Ile8371Val
XM_005246594.1:c.25110_25111delinsTG (NEB) XP_005246651.1:p.Ile8371Val
XM_005246595.1:c.25110_25111delinsTG (NEB) XP_005246652.1:p.Ile8371Val
XM_005246596.1:c.25017_25018delinsTG (NEB) XP_005246653.1:p.Ile8340Val
XM_005246597.1:c.25017_25018delinsTG (NEB) XP_005246654.1:p.Ile8340Val
XM_005246598.1:c.25017_25018delinsTG (NEB) XP_005246655.1:p.Ile8340Val
XM_005246599.1:c.24924_24925delinsTG (NEB) XP_005246656.1:p.Ile8309Val
XM_005246600.1:c.24924_24925delinsTG (NEB) XP_005246657.1:p.Ile8309Val
XM_005246601.1:c.24831_24832delinsTG (NEB) XP_005246658.1:p.Ile8278Val
XM_005246602.1:c.24831_24832delinsTG (NEB) XP_005246659.1:p.Ile8278Val
XM_005246603.1:c.24738_24739delinsTG (NEB) XP_005246660.1:p.Ile8247Val
XM_005246604.1:c.24738_24739delinsTG (NEB) XP_005246661.1:p.Ile8247Val
XM_005246606.1:c.24738_24739delinsTG (NEB) XP_005246663.1:p.Ile8247Val
XM_005246608.1:c.24645_24646delinsTG (NEB) XP_005246665.1:p.Ile8216Val
XM_005246610.1:c.24552_24553delinsTG (NEB) XP_005246667.1:p.Ile8185Val
XM_005246611.1:c.24552_24553delinsTG (NEB) XP_005246668.1:p.Ile8185Val
XM_005246612.1:c.24474_24475delinsTG (NEB) XP_005246669.1:p.Ile8159Val
XM_005246613.1:c.24474_24475delinsTG (NEB) XP_005246670.1:p.Ile8159Val
XM_005246615.1:c.24459_24460delinsTG (NEB) XP_005246672.1:p.Ile8154Val
XM_005246617.1:c.22287_22288delinsTG (NEB) XP_005246674.1:p.Ile7430Val
XM_006712541.1:c.24738_24739delinsTG (NEB) XP_006712604.1:p.Ile8247Val
XM_006712542.1:c.24738_24739delinsTG (NEB) XP_006712605.1:p.Ile8247Val
XM_011511224.1:c.25110_25111delinsTG (NEB) XP_011509526.1:p.Ile8371Val
XM_011511225.1:c.24459_24460delinsTG (NEB) XP_011509527.1:p.Ile8154Val
XM_011511226.1:c.23016_23017delinsTG (NEB) XP_011509528.1:p.Ile7673Val
XM_011511227.1:c.20829_20830delinsTG (NEB) XP_011509529.1:p.Ile6944Val
XR_922954.1:n.7839-4764_7839-4763delinsCA (RIF1)
XR_922955.1:n.7838+7130_7838+7131delinsCA (RIF1)
XR_922956.1:n.7839-4764_7839-4763delinsCA (RIF1)
XR_922957.1:n.7838+7130_7838+7131delinsCA (RIF1)
XM_005246590.2:c.25110_25111delinsTG (NEB) XP_005246647.1:p.Ile8371Val
XM_005246591.2:c.25110_25111delinsTG (NEB) XP_005246648.1:p.Ile8371Val
XM_005246592.2:c.25110_25111delinsTG (NEB) XP_005246649.1:p.Ile8371Val
XM_005246593.2:c.25110_25111delinsTG (NEB) XP_005246650.1:p.Ile8371Val
XM_005246594.2:c.25110_25111delinsTG (NEB) XP_005246651.1:p.Ile8371Val
XM_005246596.2:c.25017_25018delinsTG (NEB) XP_005246653.1:p.Ile8340Val
XM_005246597.2:c.25017_25018delinsTG (NEB) XP_005246654.1:p.Ile8340Val
XM_005246598.2:c.25017_25018delinsTG (NEB) XP_005246655.1:p.Ile8340Val
XM_005246599.2:c.24924_24925delinsTG (NEB) XP_005246656.1:p.Ile8309Val
XM_005246601.2:c.24831_24832delinsTG (NEB) XP_005246658.1:p.Ile8278Val
XM_005246602.2:c.24831_24832delinsTG (NEB) XP_005246659.1:p.Ile8278Val
XM_005246603.2:c.24738_24739delinsTG (NEB) XP_005246660.1:p.Ile8247Val
XM_005246604.2:c.24738_24739delinsTG (NEB) XP_005246661.1:p.Ile8247Val
XM_005246606.2:c.24738_24739delinsTG (NEB) XP_005246663.1:p.Ile8247Val
XM_005246608.2:c.24645_24646delinsTG (NEB) XP_005246665.1:p.Ile8216Val
XM_005246610.2:c.24552_24553delinsTG (NEB) XP_005246667.1:p.Ile8185Val
XM_005246611.2:c.24552_24553delinsTG (NEB) XP_005246668.1:p.Ile8185Val
XM_005246612.2:c.24474_24475delinsTG (NEB) XP_005246669.1:p.Ile8159Val
XM_005246613.2:c.24474_24475delinsTG (NEB) XP_005246670.1:p.Ile8159Val
XM_005246615.2:c.24459_24460delinsTG (NEB) XP_005246672.1:p.Ile8154Val
XM_005246617.2:c.22287_22288delinsTG (NEB) XP_005246674.1:p.Ile7430Val
XM_006712541.2:c.24738_24739delinsTG (NEB) XP_006712604.1:p.Ile8247Val
XM_006712542.2:c.24738_24739delinsTG (NEB) XP_006712605.1:p.Ile8247Val
XM_011511225.2:c.24459_24460delinsTG (NEB) XP_011509527.1:p.Ile8154Val
XM_011511226.2:c.23016_23017delinsTG (NEB) XP_011509528.1:p.Ile7673Val
XM_011511227.2:c.20829_20830delinsTG (NEB) XP_011509529.1:p.Ile6944Val
XM_017004177.1:c.25092_25093delinsTG (NEB) XP_016859666.1:p.Ile8365Val
XM_017004178.1:c.25017_25018delinsTG (NEB) XP_016859667.1:p.Ile8340Val
XM_017004179.1:c.24738_24739delinsTG (NEB) XP_016859668.1:p.Ile8247Val
XM_017004180.1:c.24738_24739delinsTG (NEB) XP_016859669.1:p.Ile8247Val
XM_017004181.1:c.24645_24646delinsTG (NEB) XP_016859670.1:p.Ile8216Val
XM_017004182.1:c.24552_24553delinsTG (NEB) XP_016859671.1:p.Ile8185Val
XM_017004183.1:c.24459_24460delinsTG (NEB) XP_016859672.1:p.Ile8154Val
XM_017004184.1:c.24459_24460delinsTG (NEB) XP_016859673.1:p.Ile8154Val
XM_017004185.1:c.24180_24181delinsTG (NEB) XP_016859674.1:p.Ile8061Val
XR_001738811.2:n.8214-4764_8214-4763delinsCA (RIF1)
XR_001738812.2:n.8214-4764_8214-4763delinsCA (RIF1)
XR_001738813.2:n.8213+7130_8213+7131delinsCA (RIF1)
XR_001738814.2:n.8213+7130_8213+7131delinsCA (RIF1)
XR_001738815.2:n.8213+7130_8213+7131delinsCA (RIF1)
XR_001738816.2:n.8213+7130_8213+7131delinsCA (RIF1)
XR_001738817.2:n.8213+7130_8213+7131delinsCA (RIF1)
NM_001271208.2:c.25308_25309delinsTG (NEB) NP_001258137.2:p.Ile8437Val
NM_004543.5:c.19635_19636delinsTG (NEB) NP_004534.3:p.Ile6546Val
NM_001164507.2:c.25203_25204delinsTG (NEB) MANE Plus Clinical NP_001157979.2:p.Ile8402Val
NM_001164508.2:c.25203_25204delinsTG (NEB) MANE Select NP_001157980.2:p.Ile8402Val
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