Canonical Allele Identifier: CA758871535

Gene: NEB RIF1

Linked Data

• dbSNP Id: rs1254569652
• gnomAD v3: 2-151497556-T-TATTA
• gnomAD v4: 2-151497556-T-TATTA
• MyVariant Identifiers: chr2:g.152354070_152354071insATTA (hg19) ; chr2:g.151497556_151497557insATTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151497557_151497560dup , CM000664.2:g.151497557_151497560dup	GRCh38
NC_000002.11:g.152354071_152354074dup , CM000664.1:g.152354071_152354074dup	GRCh37
NC_000002.10:g.152062317_152062320dup	NCBI36
NG_009382.2:g.241928_241931dup , LRG_202:g.241928_241931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3075-5066_3075-5063dup (NEB)
ENST00000688578.1:c.900-527_900-524dup (NEB)
ENST00000690043.1:c.6378-3307_6378-3304dup (NEB)
ENST00000693000.1:n.2657-5066_2657-5063dup (NEB)
ENST00000397345.8:c.24300+66_24300+69dup (NEB) MANE Select	ENSP00000380505.3:n.24300+66_24300+69dup
ENST00000427231.7:c.24300+66_24300+69dup (NEB) MANE Plus Clinical	ENSP00000416578.2:n.24300+66_24300+69dup
ENST00000172853.14:c.18826-1192_18826-1189dup (NEB)	ENSP00000172853.10:n.18826-1192_18826-1189dup
ENST00000397337.6:c.701+66_701+69dup (NEB)
ENST00000397345.7:c.24300+66_24300+69dup (NEB)	ENSP00000380505.3:n.24300+66_24300+69dup
ENST00000409198.5:c.18826-1192_18826-1189dup (NEB)	ENSP00000386259.1:n.18826-1192_18826-1189dup
ENST00000413693.5:c.8026-1192_8026-1189dup (NEB)	ENSP00000410961.1:n.8026-1192_8026-1189dup
ENST00000421461.6:c.736+66_736+69dup (NEB)
ENST00000424585.1:c.610-527_610-524dup (NEB)	ENSP00000404876.1:n.610-527_610-524dup
ENST00000427231.6:c.24300+66_24300+69dup (NEB)	ENSP00000416578.2:n.24300+66_24300+69dup
ENST00000434685.5:c.1395-3307_1395-3304dup (NEB)
ENST00000454583.6:c.2754-1788_2754-1785dup (RIF1)
ENST00000457745.1:n.579-229_579-226dup (RIF1)
ENST00000484077.1:n.353-229_353-226dup (RIF1)
ENST00000498015.2:n.226-5066_226-5063dup (NEB)
ENST00000603639.5:c.24300+66_24300+69dup (NEB)	ENSP00000473894.1:n.24300+66_24300+69dup
ENST00000604864.5:c.24300+66_24300+69dup (NEB)	ENSP00000474498.1:n.24300+66_24300+69dup
ENST00000618972.4:c.24405+66_24405+69dup (NEB)	ENSP00000484342.1:n.24405+66_24405+69dup
NM_001164507.1:c.24300+66_24300+69dup (NEB)	NP_001157979.1:n.24300+66_24300+69dup
NM_001164508.1:c.24300+66_24300+69dup (NEB)	NP_001157980.1:n.24300+66_24300+69dup
NM_001271208.1:c.24405+66_24405+69dup , LRG_202t1:c.24405+66_24405+69dup (NEB)	NP_001258137.1:n.24405+66_24405+69dup
NM_004543.4:c.18826-1192_18826-1189dup (NEB)	NP_004534.2:n.18826-1192_18826-1189dup
XM_005246590.1:c.24207+66_24207+69dup (NEB)	XP_005246647.1:n.24207+66_24207+69dup
XM_005246591.1:c.24207+66_24207+69dup (NEB)	XP_005246648.1:n.24207+66_24207+69dup
XM_005246592.1:c.24300+66_24300+69dup (NEB)	XP_005246649.1:n.24300+66_24300+69dup
XM_005246593.1:c.24300+66_24300+69dup (NEB)	XP_005246650.1:n.24300+66_24300+69dup
XM_005246594.1:c.24207+66_24207+69dup (NEB)	XP_005246651.1:n.24207+66_24207+69dup
XM_005246595.1:c.24207+66_24207+69dup (NEB)	XP_005246652.1:n.24207+66_24207+69dup
XM_005246596.1:c.24114+66_24114+69dup (NEB)	XP_005246653.1:n.24114+66_24114+69dup
XM_005246597.1:c.24300+66_24300+69dup (NEB)	XP_005246654.1:n.24300+66_24300+69dup
XM_005246598.1:c.24300+66_24300+69dup (NEB)	XP_005246655.1:n.24300+66_24300+69dup
XM_005246599.1:c.24021+66_24021+69dup (NEB)	XP_005246656.1:n.24021+66_24021+69dup
XM_005246600.1:c.24021+66_24021+69dup (NEB)	XP_005246657.1:n.24021+66_24021+69dup
XM_005246601.1:c.23929-527_23929-524dup (NEB)	XP_005246658.1:n.23929-527_23929-524dup
XM_005246602.1:c.23928+66_23928+69dup (NEB)	XP_005246659.1:n.23928+66_23928+69dup
XM_005246603.1:c.23929-1192_23929-1189dup (NEB)	XP_005246660.1:n.23929-1192_23929-1189dup
XM_005246604.1:c.23929-527_23929-524dup (NEB)	XP_005246661.1:n.23929-527_23929-524dup
XM_005246606.1:c.23928+66_23928+69dup (NEB)	XP_005246663.1:n.23928+66_23928+69dup
XM_005246608.1:c.23929-3307_23929-3304dup (NEB)	XP_005246665.1:n.23929-3307_23929-3304dup
XM_005246610.1:c.23836-3307_23836-3304dup (NEB)	XP_005246667.1:n.23836-3307_23836-3304dup
XM_005246611.1:c.24021+3831_24021+3834dup (NEB)	XP_005246668.1:n.24021+3831_24021+3834dup
XM_005246612.1:c.23571+66_23571+69dup (NEB)	XP_005246669.1:n.23571+66_23571+69dup
XM_005246613.1:c.23571+66_23571+69dup (NEB)	XP_005246670.1:n.23571+66_23571+69dup
XM_005246615.1:c.23928+66_23928+69dup (NEB)	XP_005246672.1:n.23928+66_23928+69dup
XM_005246616.1:c.*664_*667dup (NEB)	XP_005246673.1:n.*664_*667dup
XM_005246617.1:c.21384+66_21384+69dup (NEB)	XP_005246674.1:n.21384+66_21384+69dup
XM_006712541.1:c.23929-1192_23929-1189dup (NEB)	XP_006712604.1:n.23929-1192_23929-1189dup
XM_006712542.1:c.24021+66_24021+69dup (NEB)	XP_006712605.1:n.24021+66_24021+69dup
XM_011511224.1:c.24207+66_24207+69dup (NEB)	XP_011509526.1:n.24207+66_24207+69dup
XM_011511225.1:c.23743-3307_23743-3304dup (NEB)	XP_011509527.1:n.23743-3307_23743-3304dup
XM_011511226.1:c.22113+66_22113+69dup (NEB)	XP_011509528.1:n.22113+66_22113+69dup
XM_011511227.1:c.19926+66_19926+69dup (NEB)	XP_011509529.1:n.19926+66_19926+69dup
XR_922955.1:n.7838+14222_7838+14225dup (RIF1)
XR_922956.1:n.7937-229_7937-226dup (RIF1)
XR_922957.1:n.7839-229_7839-226dup (RIF1)
XM_005246590.2:c.24207+66_24207+69dup (NEB)	XP_005246647.1:n.24207+66_24207+69dup
XM_005246591.2:c.24207+66_24207+69dup (NEB)	XP_005246648.1:n.24207+66_24207+69dup
XM_005246592.2:c.24300+66_24300+69dup (NEB)	XP_005246649.1:n.24300+66_24300+69dup
XM_005246593.2:c.24300+66_24300+69dup (NEB)	XP_005246650.1:n.24300+66_24300+69dup
XM_005246594.2:c.24207+66_24207+69dup (NEB)	XP_005246651.1:n.24207+66_24207+69dup
XM_005246596.2:c.24114+66_24114+69dup (NEB)	XP_005246653.1:n.24114+66_24114+69dup
XM_005246597.2:c.24300+66_24300+69dup (NEB)	XP_005246654.1:n.24300+66_24300+69dup
XM_005246598.2:c.24300+66_24300+69dup (NEB)	XP_005246655.1:n.24300+66_24300+69dup
XM_005246599.2:c.24021+66_24021+69dup (NEB)	XP_005246656.1:n.24021+66_24021+69dup
XM_005246601.2:c.23929-527_23929-524dup (NEB)	XP_005246658.1:n.23929-527_23929-524dup
XM_005246602.2:c.23928+66_23928+69dup (NEB)	XP_005246659.1:n.23928+66_23928+69dup
XM_005246603.2:c.23929-1192_23929-1189dup (NEB)	XP_005246660.1:n.23929-1192_23929-1189dup
XM_005246604.2:c.23929-527_23929-524dup (NEB)	XP_005246661.1:n.23929-527_23929-524dup
XM_005246606.2:c.23928+66_23928+69dup (NEB)	XP_005246663.1:n.23928+66_23928+69dup
XM_005246608.2:c.23929-3307_23929-3304dup (NEB)	XP_005246665.1:n.23929-3307_23929-3304dup
XM_005246610.2:c.23836-3307_23836-3304dup (NEB)	XP_005246667.1:n.23836-3307_23836-3304dup
XM_005246611.2:c.24021+3831_24021+3834dup (NEB)	XP_005246668.1:n.24021+3831_24021+3834dup
XM_005246612.2:c.23571+66_23571+69dup (NEB)	XP_005246669.1:n.23571+66_23571+69dup
XM_005246613.2:c.23571+66_23571+69dup (NEB)	XP_005246670.1:n.23571+66_23571+69dup
XM_005246615.2:c.23928+66_23928+69dup (NEB)	XP_005246672.1:n.23928+66_23928+69dup
XM_005246617.2:c.21384+66_21384+69dup (NEB)	XP_005246674.1:n.21384+66_21384+69dup
XM_006712541.2:c.23929-1192_23929-1189dup (NEB)	XP_006712604.1:n.23929-1192_23929-1189dup
XM_006712542.2:c.24021+66_24021+69dup (NEB)	XP_006712605.1:n.24021+66_24021+69dup
XM_011511225.2:c.23743-3307_23743-3304dup (NEB)	XP_011509527.1:n.23743-3307_23743-3304dup
XM_011511226.2:c.22113+66_22113+69dup (NEB)	XP_011509528.1:n.22113+66_22113+69dup
XM_011511227.2:c.19926+66_19926+69dup (NEB)	XP_011509529.1:n.19926+66_19926+69dup
XM_017004177.1:c.24189+66_24189+69dup (NEB)	XP_016859666.1:n.24189+66_24189+69dup
XM_017004178.1:c.24114+66_24114+69dup (NEB)	XP_016859667.1:n.24114+66_24114+69dup
XM_017004179.1:c.23836-527_23836-524dup (NEB)	XP_016859668.1:n.23836-527_23836-524dup
XM_017004180.1:c.23835+66_23835+69dup (NEB)	XP_016859669.1:n.23835+66_23835+69dup
XM_017004181.1:c.23836-1192_23836-1189dup (NEB)	XP_016859670.1:n.23836-1192_23836-1189dup
XM_017004182.1:c.23836-1192_23836-1189dup (NEB)	XP_016859671.1:n.23836-1192_23836-1189dup
XM_017004183.1:c.23836-3307_23836-3304dup (NEB)	XP_016859672.1:n.23836-3307_23836-3304dup
XM_017004184.1:c.23836-1192_23836-1189dup (NEB)	XP_016859673.1:n.23836-1192_23836-1189dup
XM_017004185.1:c.23743-5066_23743-5063dup (NEB)	XP_016859674.1:n.23743-5066_23743-5063dup
XR_001738811.2:n.8312-229_8312-226dup (RIF1)
XR_001738812.2:n.8312-1848_8312-1845dup (RIF1)
XR_001738813.2:n.8214-229_8214-226dup (RIF1)
XR_001738814.2:n.8214-1848_8214-1845dup (RIF1)
XR_001738815.2:n.8214-5477_8214-5474dup (RIF1)
XR_001738816.2:n.8214-8653_8214-8650dup (RIF1)
XR_001738817.2:n.8213+14222_8213+14225dup (RIF1)
NM_001271208.2:c.24405+66_24405+69dup (NEB)	NP_001258137.2:n.24405+66_24405+69dup
NM_004543.5:c.18826-1192_18826-1189dup (NEB)	NP_004534.3:n.18826-1192_18826-1189dup
NM_001164507.2:c.24300+66_24300+69dup (NEB) MANE Plus Clinical	NP_001157979.2:n.24300+66_24300+69dup
NM_001164508.2:c.24300+66_24300+69dup (NEB) MANE Select	NP_001157980.2:n.24300+66_24300+69dup