Canonical Allele Identifier: CA1037855513

Gene: NEB RIF1

Linked Data

• dbSNP Id: rs2061045289
• gnomAD v3: 2-151497529-T-TTGTC
• gnomAD v4: 2-151497529-T-TTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151497531_151497534dup , CM000664.2:g.151497531_151497534dup	GRCh38
NC_000002.11:g.152354045_152354048dup , CM000664.1:g.152354045_152354048dup	GRCh37
NC_000002.10:g.152062291_152062294dup	NCBI36
NG_009382.2:g.241955_241958dup , LRG_202:g.241955_241958dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3075-5039_3075-5036dup (NEB)
ENST00000688578.1:c.900-500_900-497dup (NEB)
ENST00000690043.1:c.6378-3280_6378-3277dup (NEB)
ENST00000693000.1:n.2657-5039_2657-5036dup (NEB)
ENST00000397345.8:c.24300+93_24300+96dup (NEB) MANE Select	ENSP00000380505.3:n.24300+93_24300+96dup
ENST00000427231.7:c.24300+93_24300+96dup (NEB) MANE Plus Clinical	ENSP00000416578.2:n.24300+93_24300+96dup
ENST00000172853.14:c.18826-1165_18826-1162dup (NEB)	ENSP00000172853.10:n.18826-1165_18826-1162dup
ENST00000397337.6:c.701+93_701+96dup (NEB)
ENST00000397345.7:c.24300+93_24300+96dup (NEB)	ENSP00000380505.3:n.24300+93_24300+96dup
ENST00000409198.5:c.18826-1165_18826-1162dup (NEB)	ENSP00000386259.1:n.18826-1165_18826-1162dup
ENST00000413693.5:c.8026-1165_8026-1162dup (NEB)	ENSP00000410961.1:n.8026-1165_8026-1162dup
ENST00000421461.6:c.736+93_736+96dup (NEB)
ENST00000424585.1:c.610-500_610-497dup (NEB)	ENSP00000404876.1:n.610-500_610-497dup
ENST00000427231.6:c.24300+93_24300+96dup (NEB)	ENSP00000416578.2:n.24300+93_24300+96dup
ENST00000434685.5:c.1395-3280_1395-3277dup (NEB)
ENST00000454583.6:c.2754-1814_2754-1811dup (RIF1)
ENST00000457745.1:n.579-255_579-252dup (RIF1)
ENST00000484077.1:n.353-255_353-252dup (RIF1)
ENST00000498015.2:n.226-5039_226-5036dup (NEB)
ENST00000603639.5:c.24300+93_24300+96dup (NEB)	ENSP00000473894.1:n.24300+93_24300+96dup
ENST00000604864.5:c.24300+93_24300+96dup (NEB)	ENSP00000474498.1:n.24300+93_24300+96dup
ENST00000618972.4:c.24405+93_24405+96dup (NEB)	ENSP00000484342.1:n.24405+93_24405+96dup
NM_001164507.1:c.24300+93_24300+96dup (NEB)	NP_001157979.1:n.24300+93_24300+96dup
NM_001164508.1:c.24300+93_24300+96dup (NEB)	NP_001157980.1:n.24300+93_24300+96dup
NM_001271208.1:c.24405+93_24405+96dup , LRG_202t1:c.24405+93_24405+96dup (NEB)	NP_001258137.1:n.24405+93_24405+96dup
NM_004543.4:c.18826-1165_18826-1162dup (NEB)	NP_004534.2:n.18826-1165_18826-1162dup
XM_005246590.1:c.24207+93_24207+96dup (NEB)	XP_005246647.1:n.24207+93_24207+96dup
XM_005246591.1:c.24207+93_24207+96dup (NEB)	XP_005246648.1:n.24207+93_24207+96dup
XM_005246592.1:c.24300+93_24300+96dup (NEB)	XP_005246649.1:n.24300+93_24300+96dup
XM_005246593.1:c.24300+93_24300+96dup (NEB)	XP_005246650.1:n.24300+93_24300+96dup
XM_005246594.1:c.24207+93_24207+96dup (NEB)	XP_005246651.1:n.24207+93_24207+96dup
XM_005246595.1:c.24207+93_24207+96dup (NEB)	XP_005246652.1:n.24207+93_24207+96dup
XM_005246596.1:c.24114+93_24114+96dup (NEB)	XP_005246653.1:n.24114+93_24114+96dup
XM_005246597.1:c.24300+93_24300+96dup (NEB)	XP_005246654.1:n.24300+93_24300+96dup
XM_005246598.1:c.24300+93_24300+96dup (NEB)	XP_005246655.1:n.24300+93_24300+96dup
XM_005246599.1:c.24021+93_24021+96dup (NEB)	XP_005246656.1:n.24021+93_24021+96dup
XM_005246600.1:c.24021+93_24021+96dup (NEB)	XP_005246657.1:n.24021+93_24021+96dup
XM_005246601.1:c.23929-500_23929-497dup (NEB)	XP_005246658.1:n.23929-500_23929-497dup
XM_005246602.1:c.23928+93_23928+96dup (NEB)	XP_005246659.1:n.23928+93_23928+96dup
XM_005246603.1:c.23929-1165_23929-1162dup (NEB)	XP_005246660.1:n.23929-1165_23929-1162dup
XM_005246604.1:c.23929-500_23929-497dup (NEB)	XP_005246661.1:n.23929-500_23929-497dup
XM_005246606.1:c.23928+93_23928+96dup (NEB)	XP_005246663.1:n.23928+93_23928+96dup
XM_005246608.1:c.23929-3280_23929-3277dup (NEB)	XP_005246665.1:n.23929-3280_23929-3277dup
XM_005246610.1:c.23836-3280_23836-3277dup (NEB)	XP_005246667.1:n.23836-3280_23836-3277dup
XM_005246611.1:c.24021+3858_24021+3861dup (NEB)	XP_005246668.1:n.24021+3858_24021+3861dup
XM_005246612.1:c.23571+93_23571+96dup (NEB)	XP_005246669.1:n.23571+93_23571+96dup
XM_005246613.1:c.23571+93_23571+96dup (NEB)	XP_005246670.1:n.23571+93_23571+96dup
XM_005246615.1:c.23928+93_23928+96dup (NEB)	XP_005246672.1:n.23928+93_23928+96dup
XM_005246616.1:c.*691_*694dup (NEB)	XP_005246673.1:n.*691_*694dup
XM_005246617.1:c.21384+93_21384+96dup (NEB)	XP_005246674.1:n.21384+93_21384+96dup
XM_006712541.1:c.23929-1165_23929-1162dup (NEB)	XP_006712604.1:n.23929-1165_23929-1162dup
XM_006712542.1:c.24021+93_24021+96dup (NEB)	XP_006712605.1:n.24021+93_24021+96dup
XM_011511224.1:c.24207+93_24207+96dup (NEB)	XP_011509526.1:n.24207+93_24207+96dup
XM_011511225.1:c.23743-3280_23743-3277dup (NEB)	XP_011509527.1:n.23743-3280_23743-3277dup
XM_011511226.1:c.22113+93_22113+96dup (NEB)	XP_011509528.1:n.22113+93_22113+96dup
XM_011511227.1:c.19926+93_19926+96dup (NEB)	XP_011509529.1:n.19926+93_19926+96dup
XR_922955.1:n.7838+14196_7838+14199dup (RIF1)
XR_922956.1:n.7937-255_7937-252dup (RIF1)
XR_922957.1:n.7839-255_7839-252dup (RIF1)
XM_005246590.2:c.24207+93_24207+96dup (NEB)	XP_005246647.1:n.24207+93_24207+96dup
XM_005246591.2:c.24207+93_24207+96dup (NEB)	XP_005246648.1:n.24207+93_24207+96dup
XM_005246592.2:c.24300+93_24300+96dup (NEB)	XP_005246649.1:n.24300+93_24300+96dup
XM_005246593.2:c.24300+93_24300+96dup (NEB)	XP_005246650.1:n.24300+93_24300+96dup
XM_005246594.2:c.24207+93_24207+96dup (NEB)	XP_005246651.1:n.24207+93_24207+96dup
XM_005246596.2:c.24114+93_24114+96dup (NEB)	XP_005246653.1:n.24114+93_24114+96dup
XM_005246597.2:c.24300+93_24300+96dup (NEB)	XP_005246654.1:n.24300+93_24300+96dup
XM_005246598.2:c.24300+93_24300+96dup (NEB)	XP_005246655.1:n.24300+93_24300+96dup
XM_005246599.2:c.24021+93_24021+96dup (NEB)	XP_005246656.1:n.24021+93_24021+96dup
XM_005246601.2:c.23929-500_23929-497dup (NEB)	XP_005246658.1:n.23929-500_23929-497dup
XM_005246602.2:c.23928+93_23928+96dup (NEB)	XP_005246659.1:n.23928+93_23928+96dup
XM_005246603.2:c.23929-1165_23929-1162dup (NEB)	XP_005246660.1:n.23929-1165_23929-1162dup
XM_005246604.2:c.23929-500_23929-497dup (NEB)	XP_005246661.1:n.23929-500_23929-497dup
XM_005246606.2:c.23928+93_23928+96dup (NEB)	XP_005246663.1:n.23928+93_23928+96dup
XM_005246608.2:c.23929-3280_23929-3277dup (NEB)	XP_005246665.1:n.23929-3280_23929-3277dup
XM_005246610.2:c.23836-3280_23836-3277dup (NEB)	XP_005246667.1:n.23836-3280_23836-3277dup
XM_005246611.2:c.24021+3858_24021+3861dup (NEB)	XP_005246668.1:n.24021+3858_24021+3861dup
XM_005246612.2:c.23571+93_23571+96dup (NEB)	XP_005246669.1:n.23571+93_23571+96dup
XM_005246613.2:c.23571+93_23571+96dup (NEB)	XP_005246670.1:n.23571+93_23571+96dup
XM_005246615.2:c.23928+93_23928+96dup (NEB)	XP_005246672.1:n.23928+93_23928+96dup
XM_005246617.2:c.21384+93_21384+96dup (NEB)	XP_005246674.1:n.21384+93_21384+96dup
XM_006712541.2:c.23929-1165_23929-1162dup (NEB)	XP_006712604.1:n.23929-1165_23929-1162dup
XM_006712542.2:c.24021+93_24021+96dup (NEB)	XP_006712605.1:n.24021+93_24021+96dup
XM_011511225.2:c.23743-3280_23743-3277dup (NEB)	XP_011509527.1:n.23743-3280_23743-3277dup
XM_011511226.2:c.22113+93_22113+96dup (NEB)	XP_011509528.1:n.22113+93_22113+96dup
XM_011511227.2:c.19926+93_19926+96dup (NEB)	XP_011509529.1:n.19926+93_19926+96dup
XM_017004177.1:c.24189+93_24189+96dup (NEB)	XP_016859666.1:n.24189+93_24189+96dup
XM_017004178.1:c.24114+93_24114+96dup (NEB)	XP_016859667.1:n.24114+93_24114+96dup
XM_017004179.1:c.23836-500_23836-497dup (NEB)	XP_016859668.1:n.23836-500_23836-497dup
XM_017004180.1:c.23835+93_23835+96dup (NEB)	XP_016859669.1:n.23835+93_23835+96dup
XM_017004181.1:c.23836-1165_23836-1162dup (NEB)	XP_016859670.1:n.23836-1165_23836-1162dup
XM_017004182.1:c.23836-1165_23836-1162dup (NEB)	XP_016859671.1:n.23836-1165_23836-1162dup
XM_017004183.1:c.23836-3280_23836-3277dup (NEB)	XP_016859672.1:n.23836-3280_23836-3277dup
XM_017004184.1:c.23836-1165_23836-1162dup (NEB)	XP_016859673.1:n.23836-1165_23836-1162dup
XM_017004185.1:c.23743-5039_23743-5036dup (NEB)	XP_016859674.1:n.23743-5039_23743-5036dup
XR_001738811.2:n.8312-255_8312-252dup (RIF1)
XR_001738812.2:n.8312-1874_8312-1871dup (RIF1)
XR_001738813.2:n.8214-255_8214-252dup (RIF1)
XR_001738814.2:n.8214-1874_8214-1871dup (RIF1)
XR_001738815.2:n.8214-5503_8214-5500dup (RIF1)
XR_001738816.2:n.8214-8679_8214-8676dup (RIF1)
XR_001738817.2:n.8213+14196_8213+14199dup (RIF1)
NM_001271208.2:c.24405+93_24405+96dup (NEB)	NP_001258137.2:n.24405+93_24405+96dup
NM_004543.5:c.18826-1165_18826-1162dup (NEB)	NP_004534.3:n.18826-1165_18826-1162dup
NM_001164507.2:c.24300+93_24300+96dup (NEB) MANE Plus Clinical	NP_001157979.2:n.24300+93_24300+96dup
NM_001164508.2:c.24300+93_24300+96dup (NEB) MANE Select	NP_001157980.2:n.24300+93_24300+96dup