Canonical Allele Identifier: CA204752

Gene: NEB RIF1

Linked Data

• ClinVar Variation Id: 194452
• ClinVar RCV Id: RCV000174822 ; RCV000190735 ; RCV000724111
• dbSNP Id: rs794727136
• MyVariant Identifiers: chr2:g.152350295_152350296del (hg19) ; chr2:g.152350295_152350296delAA (hg19) ; chr2:g.151493781_151493782del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151493782_151493783del , CM000664.2:g.151493782_151493783del	GRCh38
NC_000002.11:g.152350296_152350297del , CM000664.1:g.152350296_152350297del	GRCh37
NC_000002.10:g.152058542_152058543del	NCBI36
NG_009382.2:g.245706_245707del , LRG_202:g.245706_245707del

Transcript Alleles

HGVS	Amino-acid change
ENST00000434685.6:c.3075-1288_3075-1287del (NEB)
ENST00000688578.1:c.1264_1265del (NEB)
ENST00000690043.1:c.6470+379_6470+380del (NEB)
ENST00000693000.1:n.2657-1288_2657-1287del (NEB)
ENST00000397345.8:c.24665_24666del (NEB) MANE Select	ENSP00000380505.3:p.Phe8222Ter
ENST00000427231.7:c.24665_24666del (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Phe8222Ter
ENST00000172853.14:c.19097_19098del (NEB)	ENSP00000172853.10:p.Phe6366Ter
ENST00000397337.6:c.1066_1067del (NEB)
ENST00000397345.7:c.24665_24666del (NEB)	ENSP00000380505.3:p.Phe8222Ter
ENST00000409198.5:c.19097_19098del (NEB)	ENSP00000386259.1:p.Phe6366Ter
ENST00000413693.5:c.8211+379_8211+380del (NEB)	ENSP00000410961.1:n.8211+379_8211+380del
ENST00000421461.6:c.1101_1102del (NEB)
ENST00000427231.6:c.24665_24666del (NEB)	ENSP00000416578.2:p.Phe8222Ter
ENST00000434685.5:c.1487+379_1487+380del (NEB)
ENST00000454583.6:c.2656-1447_2656-1446del (RIF1)
ENST00000457745.1:n.481-1447_481-1446del (RIF1)
ENST00000498015.2:n.226-1288_226-1287del (NEB)
ENST00000603639.5:c.24665_24666del (NEB)	ENSP00000473894.1:p.Phe8222Ter
ENST00000604864.5:c.24665_24666del (NEB)	ENSP00000474498.1:p.Phe8222Ter
ENST00000618972.4:c.24770_24771del (NEB)	ENSP00000484342.1:p.Phe8257Ter
NM_001164507.1:c.24665_24666del (NEB)	NP_001157979.1:p.Phe8222Ter
NM_001164508.1:c.24665_24666del (NEB)	NP_001157980.1:p.Phe8222Ter
NM_001271208.1:c.24770_24771del , LRG_202t1:c.24770_24771del (NEB)	NP_001258137.1:p.Phe8257Ter
NM_004543.4:c.19097_19098del (NEB)	NP_004534.2:p.Phe6366Ter
XM_005246590.1:c.24572_24573del (NEB)	XP_005246647.1:p.Phe8191Ter
XM_005246591.1:c.24572_24573del (NEB)	XP_005246648.1:p.Phe8191Ter
XM_005246592.1:c.24572_24573del (NEB)	XP_005246649.1:p.Phe8191Ter
XM_005246593.1:c.24580-337_24580-336del (NEB)	XP_005246650.1:n.24580-337_24580-336del
XM_005246594.1:c.24572_24573del (NEB)	XP_005246651.1:p.Phe8191Ter
XM_005246595.1:c.24572_24573del (NEB)	XP_005246652.1:p.Phe8191Ter
XM_005246596.1:c.24479_24480del (NEB)	XP_005246653.1:p.Phe8160Ter
XM_005246597.1:c.24479_24480del (NEB)	XP_005246654.1:p.Phe8160Ter
XM_005246598.1:c.24579+379_24579+380del (NEB)	XP_005246655.1:n.24579+379_24579+380del
XM_005246599.1:c.24386_24387del (NEB)	XP_005246656.1:p.Phe8129Ter
XM_005246600.1:c.24386_24387del (NEB)	XP_005246657.1:p.Phe8129Ter
XM_005246601.1:c.24293_24294del (NEB)	XP_005246658.1:p.Phe8098Ter
XM_005246602.1:c.24293_24294del (NEB)	XP_005246659.1:p.Phe8098Ter
XM_005246603.1:c.24200_24201del (NEB)	XP_005246660.1:p.Phe8067Ter
XM_005246604.1:c.24208-337_24208-336del (NEB)	XP_005246661.1:n.24208-337_24208-336del
XM_005246606.1:c.24200_24201del (NEB)	XP_005246663.1:p.Phe8067Ter
XM_005246608.1:c.24107_24108del (NEB)	XP_005246665.1:p.Phe8036Ter
XM_005246610.1:c.24014_24015del (NEB)	XP_005246667.1:p.Phe8005Ter
XM_005246611.1:c.24022-337_24022-336del (NEB)	XP_005246668.1:n.24022-337_24022-336del
XM_005246612.1:c.23936_23937del (NEB)	XP_005246669.1:p.Phe7979Ter
XM_005246613.1:c.23936_23937del (NEB)	XP_005246670.1:p.Phe7979Ter
XM_005246615.1:c.24021+379_24021+380del (NEB)	XP_005246672.1:n.24021+379_24021+380del
XM_005246617.1:c.21749_21750del (NEB)	XP_005246674.1:p.Phe7250Ter
XM_006712541.1:c.24200_24201del (NEB)	XP_006712604.1:p.Phe8067Ter
XM_006712542.1:c.24200_24201del (NEB)	XP_006712605.1:p.Phe8067Ter
XM_011511224.1:c.24572_24573del (NEB)	XP_011509526.1:p.Phe8191Ter
XM_011511225.1:c.23921_23922del (NEB)	XP_011509527.1:p.Phe7974Ter
XM_011511226.1:c.22478_22479del (NEB)	XP_011509528.1:p.Phe7493Ter
XM_011511227.1:c.20291_20292del (NEB)	XP_011509529.1:p.Phe6764Ter
XR_922954.1:n.7839-1447_7839-1446del (RIF1)
XR_922955.1:n.7838+10447_7838+10448del (RIF1)
XR_922956.1:n.7839-1447_7839-1446del (RIF1)
XR_922957.1:n.7839-4004_7839-4003del (RIF1)
XM_005246590.2:c.24572_24573del (NEB)	XP_005246647.1:p.Phe8191Ter
XM_005246591.2:c.24572_24573del (NEB)	XP_005246648.1:p.Phe8191Ter
XM_005246592.2:c.24572_24573del (NEB)	XP_005246649.1:p.Phe8191Ter
XM_005246593.2:c.24580-337_24580-336del (NEB)	XP_005246650.1:n.24580-337_24580-336del
XM_005246594.2:c.24572_24573del (NEB)	XP_005246651.1:p.Phe8191Ter
XM_005246596.2:c.24479_24480del (NEB)	XP_005246653.1:p.Phe8160Ter
XM_005246597.2:c.24479_24480del (NEB)	XP_005246654.1:p.Phe8160Ter
XM_005246598.2:c.24579+379_24579+380del (NEB)	XP_005246655.1:n.24579+379_24579+380del
XM_005246599.2:c.24386_24387del (NEB)	XP_005246656.1:p.Phe8129Ter
XM_005246601.2:c.24293_24294del (NEB)	XP_005246658.1:p.Phe8098Ter
XM_005246602.2:c.24293_24294del (NEB)	XP_005246659.1:p.Phe8098Ter
XM_005246603.2:c.24200_24201del (NEB)	XP_005246660.1:p.Phe8067Ter
XM_005246604.2:c.24208-337_24208-336del (NEB)	XP_005246661.1:n.24208-337_24208-336del
XM_005246606.2:c.24200_24201del (NEB)	XP_005246663.1:p.Phe8067Ter
XM_005246608.2:c.24107_24108del (NEB)	XP_005246665.1:p.Phe8036Ter
XM_005246610.2:c.24014_24015del (NEB)	XP_005246667.1:p.Phe8005Ter
XM_005246611.2:c.24022-337_24022-336del (NEB)	XP_005246668.1:n.24022-337_24022-336del
XM_005246612.2:c.23936_23937del (NEB)	XP_005246669.1:p.Phe7979Ter
XM_005246613.2:c.23936_23937del (NEB)	XP_005246670.1:p.Phe7979Ter
XM_005246615.2:c.24021+379_24021+380del (NEB)	XP_005246672.1:n.24021+379_24021+380del
XM_005246617.2:c.21749_21750del (NEB)	XP_005246674.1:p.Phe7250Ter
XM_006712541.2:c.24200_24201del (NEB)	XP_006712604.1:p.Phe8067Ter
XM_006712542.2:c.24200_24201del (NEB)	XP_006712605.1:p.Phe8067Ter
XM_011511225.2:c.23921_23922del (NEB)	XP_011509527.1:p.Phe7974Ter
XM_011511226.2:c.22478_22479del (NEB)	XP_011509528.1:p.Phe7493Ter
XM_011511227.2:c.20291_20292del (NEB)	XP_011509529.1:p.Phe6764Ter
XM_017004177.1:c.24554_24555del (NEB)	XP_016859666.1:p.Phe8185Ter
XM_017004178.1:c.24479_24480del (NEB)	XP_016859667.1:p.Phe8160Ter
XM_017004179.1:c.24200_24201del (NEB)	XP_016859668.1:p.Phe8067Ter
XM_017004180.1:c.24200_24201del (NEB)	XP_016859669.1:p.Phe8067Ter
XM_017004181.1:c.24107_24108del (NEB)	XP_016859670.1:p.Phe8036Ter
XM_017004182.1:c.24022-337_24022-336del (NEB)	XP_016859671.1:n.24022-337_24022-336del
XM_017004183.1:c.23929-337_23929-336del (NEB)	XP_016859672.1:n.23929-337_23929-336del
XM_017004184.1:c.24021+379_24021+380del (NEB)	XP_016859673.1:n.24021+379_24021+380del
XM_017004185.1:c.23743-1288_23743-1287del (NEB)	XP_016859674.1:n.23743-1288_23743-1287del...
XR_001738811.2:n.8214-1447_8214-1446del (RIF1)
XR_001738812.2:n.8214-1447_8214-1446del (RIF1)
XR_001738813.2:n.8214-4004_8214-4003del (RIF1)
XR_001738814.2:n.8214-5623_8214-5622del (RIF1)
XR_001738815.2:n.8214-9252_8214-9251del (RIF1)
XR_001738816.2:n.8213+10447_8213+10448del (RIF1)
XR_001738817.2:n.8213+10447_8213+10448del (RIF1)
NM_001271208.2:c.24770_24771del (NEB)	NP_001258137.2:p.Phe8257Ter
NM_004543.5:c.19097_19098del (NEB)	NP_004534.3:p.Phe6366Ter
NM_001164507.2:c.24665_24666del (NEB) MANE Plus Clinical	NP_001157979.2:p.Phe8222Ter
NM_001164508.2:c.24665_24666del (NEB) MANE Select	NP_001157980.2:p.Phe8222Ter