Canonical Allele Identifier: CA2573133025

Gene: NEB RIF1

Linked Data

• ClinVar Variation Id: 1452141
• ClinVar RCV Id: RCV002035475 ; RCV003475211
• dbSNP Id: rs2152620357
• gnomAD v4: 2-151485908-T-TAGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151485910_151485913dup , CM000664.2:g.151485910_151485913dup	GRCh38
NC_000002.11:g.152342424_152342427dup , CM000664.1:g.152342424_152342427dup	GRCh37
NC_000002.10:g.152050670_152050673dup	NCBI36
NG_009382.2:g.253576_253579dup , LRG_202:g.253576_253579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3735_3738dup (NEB)
ENST00000688578.1:c.2025_2028dup (NEB)
ENST00000689642.1:n.1245_1248dup (NEB)
ENST00000690043.1:c.7131_7134dup (NEB)
ENST00000693000.1:n.3317_3320dup (NEB)
ENST00000397345.8:c.25426_25429dup (NEB) MANE Select	ENSP00000380505.3:p.Tyr8477Ter
ENST00000427231.7:c.25426_25429dup (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Tyr8477Ter
ENST00000172853.14:c.19858_19861dup (NEB)	ENSP00000172853.10:p.Tyr6621Ter
ENST00000397337.6:c.1827_1830dup (NEB)
ENST00000397345.7:c.25426_25429dup (NEB)	ENSP00000380505.3:p.Tyr8477Ter
ENST00000409198.5:c.19858_19861dup (NEB)	ENSP00000386259.1:p.Tyr6621Ter
ENST00000413693.5:c.8872_8875dup (NEB)	ENSP00000410961.1:p.Tyr2959Ter
ENST00000427231.6:c.25426_25429dup (NEB)	ENSP00000416578.2:p.Tyr8477Ter
ENST00000434685.5:c.2148_2151dup (NEB)
ENST00000454583.6:c.2655+2575_2655+2578dup (RIF1)
ENST00000603639.5:c.25426_25429dup (NEB)	ENSP00000473894.1:p.Tyr8477Ter
ENST00000604864.5:c.25426_25429dup (NEB)	ENSP00000474498.1:p.Tyr8477Ter
ENST00000618972.4:c.25531_25534dup (NEB)	ENSP00000484342.1:p.Tyr8512Ter
NM_001164507.1:c.25426_25429dup (NEB)	NP_001157979.1:p.Tyr8477Ter
NM_001164508.1:c.25426_25429dup (NEB)	NP_001157980.1:p.Tyr8477Ter
NM_001271208.1:c.25531_25534dup , LRG_202t1:c.25531_25534dup (NEB)	NP_001258137.1:p.Tyr8512Ter
NM_004543.4:c.19858_19861dup (NEB)	NP_004534.2:p.Tyr6621Ter
XM_005246590.1:c.25333_25336dup (NEB)	XP_005246647.1:p.Tyr8446Ter
XM_005246591.1:c.25333_25336dup (NEB)	XP_005246648.1:p.Tyr8446Ter
XM_005246592.1:c.25333_25336dup (NEB)	XP_005246649.1:p.Tyr8446Ter
XM_005246593.1:c.25333_25336dup (NEB)	XP_005246650.1:p.Tyr8446Ter
XM_005246594.1:c.25333_25336dup (NEB)	XP_005246651.1:p.Tyr8446Ter
XM_005246595.1:c.25333_25336dup (NEB)	XP_005246652.1:p.Tyr8446Ter
XM_005246596.1:c.25240_25243dup (NEB)	XP_005246653.1:p.Tyr8415Ter
XM_005246597.1:c.25240_25243dup (NEB)	XP_005246654.1:p.Tyr8415Ter
XM_005246598.1:c.25240_25243dup (NEB)	XP_005246655.1:p.Tyr8415Ter
XM_005246599.1:c.25147_25150dup (NEB)	XP_005246656.1:p.Tyr8384Ter
XM_005246600.1:c.25147_25150dup (NEB)	XP_005246657.1:p.Tyr8384Ter
XM_005246601.1:c.25054_25057dup (NEB)	XP_005246658.1:p.Tyr8353Ter
XM_005246602.1:c.25054_25057dup (NEB)	XP_005246659.1:p.Tyr8353Ter
XM_005246603.1:c.24961_24964dup (NEB)	XP_005246660.1:p.Tyr8322Ter
XM_005246604.1:c.24961_24964dup (NEB)	XP_005246661.1:p.Tyr8322Ter
XM_005246606.1:c.24961_24964dup (NEB)	XP_005246663.1:p.Tyr8322Ter
XM_005246608.1:c.24868_24871dup (NEB)	XP_005246665.1:p.Tyr8291Ter
XM_005246610.1:c.24775_24778dup (NEB)	XP_005246667.1:p.Tyr8260Ter
XM_005246611.1:c.24775_24778dup (NEB)	XP_005246668.1:p.Tyr8260Ter
XM_005246612.1:c.24697_24700dup (NEB)	XP_005246669.1:p.Tyr8234Ter
XM_005246613.1:c.24697_24700dup (NEB)	XP_005246670.1:p.Tyr8234Ter
XM_005246615.1:c.24682_24685dup (NEB)	XP_005246672.1:p.Tyr8229Ter
XM_005246617.1:c.22510_22513dup (NEB)	XP_005246674.1:p.Tyr7505Ter
XM_006712541.1:c.24961_24964dup (NEB)	XP_006712604.1:p.Tyr8322Ter
XM_006712542.1:c.24961_24964dup (NEB)	XP_006712605.1:p.Tyr8322Ter
XM_011511224.1:c.25333_25336dup (NEB)	XP_011509526.1:p.Tyr8446Ter
XM_011511225.1:c.24682_24685dup (NEB)	XP_011509527.1:p.Tyr8229Ter
XM_011511226.1:c.23239_23242dup (NEB)	XP_011509528.1:p.Tyr7748Ter
XM_011511227.1:c.21052_21055dup (NEB)	XP_011509529.1:p.Tyr7019Ter
XR_922954.1:n.7838+2575_7838+2578dup (RIF1)
XR_922955.1:n.7838+2575_7838+2578dup (RIF1)
XR_922956.1:n.7838+2575_7838+2578dup (RIF1)
XR_922957.1:n.7838+2575_7838+2578dup (RIF1)
XM_005246590.2:c.25333_25336dup (NEB)	XP_005246647.1:p.Tyr8446Ter
XM_005246591.2:c.25333_25336dup (NEB)	XP_005246648.1:p.Tyr8446Ter
XM_005246592.2:c.25333_25336dup (NEB)	XP_005246649.1:p.Tyr8446Ter
XM_005246593.2:c.25333_25336dup (NEB)	XP_005246650.1:p.Tyr8446Ter
XM_005246594.2:c.25333_25336dup (NEB)	XP_005246651.1:p.Tyr8446Ter
XM_005246596.2:c.25240_25243dup (NEB)	XP_005246653.1:p.Tyr8415Ter
XM_005246597.2:c.25240_25243dup (NEB)	XP_005246654.1:p.Tyr8415Ter
XM_005246598.2:c.25240_25243dup (NEB)	XP_005246655.1:p.Tyr8415Ter
XM_005246599.2:c.25147_25150dup (NEB)	XP_005246656.1:p.Tyr8384Ter
XM_005246601.2:c.25054_25057dup (NEB)	XP_005246658.1:p.Tyr8353Ter
XM_005246602.2:c.25054_25057dup (NEB)	XP_005246659.1:p.Tyr8353Ter
XM_005246603.2:c.24961_24964dup (NEB)	XP_005246660.1:p.Tyr8322Ter
XM_005246604.2:c.24961_24964dup (NEB)	XP_005246661.1:p.Tyr8322Ter
XM_005246606.2:c.24961_24964dup (NEB)	XP_005246663.1:p.Tyr8322Ter
XM_005246608.2:c.24868_24871dup (NEB)	XP_005246665.1:p.Tyr8291Ter
XM_005246610.2:c.24775_24778dup (NEB)	XP_005246667.1:p.Tyr8260Ter
XM_005246611.2:c.24775_24778dup (NEB)	XP_005246668.1:p.Tyr8260Ter
XM_005246612.2:c.24697_24700dup (NEB)	XP_005246669.1:p.Tyr8234Ter
XM_005246613.2:c.24697_24700dup (NEB)	XP_005246670.1:p.Tyr8234Ter
XM_005246615.2:c.24682_24685dup (NEB)	XP_005246672.1:p.Tyr8229Ter
XM_005246617.2:c.22510_22513dup (NEB)	XP_005246674.1:p.Tyr7505Ter
XM_006712541.2:c.24961_24964dup (NEB)	XP_006712604.1:p.Tyr8322Ter
XM_006712542.2:c.24961_24964dup (NEB)	XP_006712605.1:p.Tyr8322Ter
XM_011511225.2:c.24682_24685dup (NEB)	XP_011509527.1:p.Tyr8229Ter
XM_011511226.2:c.23239_23242dup (NEB)	XP_011509528.1:p.Tyr7748Ter
XM_011511227.2:c.21052_21055dup (NEB)	XP_011509529.1:p.Tyr7019Ter
XM_017004177.1:c.25315_25318dup (NEB)	XP_016859666.1:p.Tyr8440Ter
XM_017004178.1:c.25240_25243dup (NEB)	XP_016859667.1:p.Tyr8415Ter
XM_017004179.1:c.24961_24964dup (NEB)	XP_016859668.1:p.Tyr8322Ter
XM_017004180.1:c.24961_24964dup (NEB)	XP_016859669.1:p.Tyr8322Ter
XM_017004181.1:c.24868_24871dup (NEB)	XP_016859670.1:p.Tyr8291Ter
XM_017004182.1:c.24775_24778dup (NEB)	XP_016859671.1:p.Tyr8260Ter
XM_017004183.1:c.24682_24685dup (NEB)	XP_016859672.1:p.Tyr8229Ter
XM_017004184.1:c.24682_24685dup (NEB)	XP_016859673.1:p.Tyr8229Ter
XM_017004185.1:c.24403_24406dup (NEB)	XP_016859674.1:p.Tyr8136Ter
XR_001738811.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738812.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738813.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738814.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738815.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738816.2:n.8213+2575_8213+2578dup (RIF1)
XR_001738817.2:n.8213+2575_8213+2578dup (RIF1)
NM_001271208.2:c.25531_25534dup (NEB)	NP_001258137.2:p.Tyr8512Ter
NM_004543.5:c.19858_19861dup (NEB)	NP_004534.3:p.Tyr6621Ter
NM_001164507.2:c.25426_25429dup (NEB) MANE Plus Clinical	NP_001157979.2:p.Tyr8477Ter
NM_001164508.2:c.25426_25429dup (NEB) MANE Select	NP_001157980.2:p.Tyr8477Ter