Canonical Allele Identifier: CA16042413

Gene: NEB RIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151494236_151494238dup , CM000664.2:g.151494236_151494238dup	GRCh38
NC_000002.11:g.152350750_152350752dup , CM000664.1:g.152350750_152350752dup	GRCh37
NC_000002.10:g.152058996_152058998dup	NCBI36
NG_009382.2:g.245250_245252dup , LRG_202:g.245250_245252dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001164508.2:c.24502_24504dup (NEB) MANE Select	NP_001157980.2:p.Asn8168_Val8169insAsn
ENST00000397345.8:c.24502_24504dup (NEB) MANE Select	ENSP00000380505.3:p.Asn8168_Val8169insAsn
NM_001164507.2:c.24502_24504dup (NEB) MANE Plus Clinical	NP_001157979.2:p.Asn8168_Val8169insAsn
ENST00000427231.7:c.24502_24504dup (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Asn8168_Val8169insAsn
NM_001164507.1:c.24502_24504dup (NEB)	NP_001157979.1:p.Asn8168_Val8169insAsn
NM_001164508.1:c.24502_24504dup (NEB)	NP_001157980.1:p.Asn8168_Val8169insAsn
NM_001271208.1:c.24607_24609dup , LRG_202t1:c.24607_24609dup (NEB)	NP_001258137.1:p.Asn8203_Val8204insAsn
NM_001271208.2:c.24607_24609dup (NEB)	NP_001258137.2:p.Asn8203_Val8204insAsn
NM_004543.4:c.18934_18936dup (NEB)	NP_004534.2:p.Asn6312_Val6313insAsn
NM_004543.5:c.18934_18936dup (NEB)	NP_004534.3:p.Asn6312_Val6313insAsn
ENST00000172853.14:c.18934_18936dup (NEB)	ENSP00000172853.10:p.Asn6312_Val6313insAsn
ENST00000397337.6:c.903_905dup (NEB)
ENST00000397345.7:c.24502_24504dup (NEB)	ENSP00000380505.3:p.Asn8168_Val8169insAsn
ENST00000409198.5:c.18934_18936dup (NEB)	ENSP00000386259.1:p.Asn6312_Val6313insAsn
ENST00000413693.5:c.8134_8136dup (NEB)	ENSP00000410961.1:p.Asn2712_Val2713insAsn
ENST00000421461.6:c.938_940dup (NEB)
ENST00000427231.6:c.24502_24504dup (NEB)	ENSP00000416578.2:p.Asn8168_Val8169insAsn
ENST00000434685.5:c.1410_1412dup (NEB)
ENST00000434685.6:c.3075-1744_3075-1742dup (NEB)
ENST00000454583.6:c.2656-993_2656-991dup (RIF1)
ENST00000457745.1:n.481-993_481-991dup (RIF1)
ENST00000498015.2:n.226-1744_226-1742dup (NEB)
ENST00000603639.5:c.24502_24504dup (NEB)	ENSP00000473894.1:p.Asn8168_Val8169insAsn
ENST00000604864.5:c.24502_24504dup (NEB)	ENSP00000474498.1:p.Asn8168_Val8169insAsn
ENST00000618972.4:c.24607_24609dup (NEB)	ENSP00000484342.1:p.Asn8203_Val8204insAsn
ENST00000688578.1:c.1101_1103dup (NEB)
ENST00000690043.1:c.6393_6395dup (NEB)
ENST00000693000.1:n.2657-1744_2657-1742dup (NEB)
XM_005246590.1:c.24409_24411dup (NEB)	XP_005246647.1:p.Asn8137_Val8138insAsn
XM_005246590.2:c.24409_24411dup (NEB)	XP_005246647.1:p.Asn8137_Val8138insAsn
XM_005246591.1:c.24409_24411dup (NEB)	XP_005246648.1:p.Asn8137_Val8138insAsn
XM_005246591.2:c.24409_24411dup (NEB)	XP_005246648.1:p.Asn8137_Val8138insAsn
XM_005246592.1:c.24409_24411dup (NEB)	XP_005246649.1:p.Asn8137_Val8138insAsn
XM_005246592.2:c.24409_24411dup (NEB)	XP_005246649.1:p.Asn8137_Val8138insAsn
XM_005246593.1:c.24502_24504dup (NEB)	XP_005246650.1:p.Asn8168_Val8169insAsn
XM_005246593.2:c.24502_24504dup (NEB)	XP_005246650.1:p.Asn8168_Val8169insAsn
XM_005246594.1:c.24409_24411dup (NEB)	XP_005246651.1:p.Asn8137_Val8138insAsn
XM_005246594.2:c.24409_24411dup (NEB)	XP_005246651.1:p.Asn8137_Val8138insAsn
XM_005246595.1:c.24409_24411dup (NEB)	XP_005246652.1:p.Asn8137_Val8138insAsn
XM_005246596.1:c.24316_24318dup (NEB)	XP_005246653.1:p.Asn8106_Val8107insAsn
XM_005246596.2:c.24316_24318dup (NEB)	XP_005246653.1:p.Asn8106_Val8107insAsn
XM_005246597.1:c.24316_24318dup (NEB)	XP_005246654.1:p.Asn8106_Val8107insAsn
XM_005246597.2:c.24316_24318dup (NEB)	XP_005246654.1:p.Asn8106_Val8107insAsn
XM_005246598.1:c.24502_24504dup (NEB)	XP_005246655.1:p.Asn8168_Val8169insAsn
XM_005246598.2:c.24502_24504dup (NEB)	XP_005246655.1:p.Asn8168_Val8169insAsn
XM_005246599.1:c.24223_24225dup (NEB)	XP_005246656.1:p.Asn8075_Val8076insAsn
XM_005246599.2:c.24223_24225dup (NEB)	XP_005246656.1:p.Asn8075_Val8076insAsn
XM_005246600.1:c.24223_24225dup (NEB)	XP_005246657.1:p.Asn8075_Val8076insAsn
XM_005246601.1:c.24130_24132dup (NEB)	XP_005246658.1:p.Asn8044_Val8045insAsn
XM_005246601.2:c.24130_24132dup (NEB)	XP_005246658.1:p.Asn8044_Val8045insAsn
XM_005246602.1:c.24130_24132dup (NEB)	XP_005246659.1:p.Asn8044_Val8045insAsn
XM_005246602.2:c.24130_24132dup (NEB)	XP_005246659.1:p.Asn8044_Val8045insAsn
XM_005246603.1:c.24037_24039dup (NEB)	XP_005246660.1:p.Asn8013_Val8014insAsn
XM_005246603.2:c.24037_24039dup (NEB)	XP_005246660.1:p.Asn8013_Val8014insAsn
XM_005246604.1:c.24130_24132dup (NEB)	XP_005246661.1:p.Asn8044_Val8045insAsn
XM_005246604.2:c.24130_24132dup (NEB)	XP_005246661.1:p.Asn8044_Val8045insAsn
XM_005246606.1:c.24037_24039dup (NEB)	XP_005246663.1:p.Asn8013_Val8014insAsn
XM_005246606.2:c.24037_24039dup (NEB)	XP_005246663.1:p.Asn8013_Val8014insAsn
XM_005246608.1:c.23944_23946dup (NEB)	XP_005246665.1:p.Asn7982_Val7983insAsn
XM_005246608.2:c.23944_23946dup (NEB)	XP_005246665.1:p.Asn7982_Val7983insAsn
XM_005246610.1:c.23851_23853dup (NEB)	XP_005246667.1:p.Asn7951_Val7952insAsn
XM_005246610.2:c.23851_23853dup (NEB)	XP_005246667.1:p.Asn7951_Val7952insAsn
XM_005246611.1:c.24022-793_24022-791dup (NEB)	XP_005246668.1:n.24022-793_24022-791dup
XM_005246611.2:c.24022-793_24022-791dup (NEB)	XP_005246668.1:n.24022-793_24022-791dup
XM_005246612.1:c.23773_23775dup (NEB)	XP_005246669.1:p.Asn7925_Val7926insAsn
XM_005246612.2:c.23773_23775dup (NEB)	XP_005246669.1:p.Asn7925_Val7926insAsn
XM_005246613.1:c.23773_23775dup (NEB)	XP_005246670.1:p.Asn7925_Val7926insAsn
XM_005246613.2:c.23773_23775dup (NEB)	XP_005246670.1:p.Asn7925_Val7926insAsn
XM_005246615.1:c.23944_23946dup (NEB)	XP_005246672.1:p.Asn7982_Val7983insAsn
XM_005246615.2:c.23944_23946dup (NEB)	XP_005246672.1:p.Asn7982_Val7983insAsn
XM_005246617.1:c.21586_21588dup (NEB)	XP_005246674.1:p.Asn7196_Val7197insAsn
XM_005246617.2:c.21586_21588dup (NEB)	XP_005246674.1:p.Asn7196_Val7197insAsn
XM_006712541.1:c.24037_24039dup (NEB)	XP_006712604.1:p.Asn8013_Val8014insAsn
XM_006712541.2:c.24037_24039dup (NEB)	XP_006712604.1:p.Asn8013_Val8014insAsn
XM_006712542.1:c.24037_24039dup (NEB)	XP_006712605.1:p.Asn8013_Val8014insAsn
XM_006712542.2:c.24037_24039dup (NEB)	XP_006712605.1:p.Asn8013_Val8014insAsn
XM_011511224.1:c.24409_24411dup (NEB)	XP_011509526.1:p.Asn8137_Val8138insAsn
XM_011511225.1:c.23758_23760dup (NEB)	XP_011509527.1:p.Asn7920_Val7921insAsn
XM_011511225.2:c.23758_23760dup (NEB)	XP_011509527.1:p.Asn7920_Val7921insAsn
XM_011511226.1:c.22315_22317dup (NEB)	XP_011509528.1:p.Asn7439_Val7440insAsn
XM_011511226.2:c.22315_22317dup (NEB)	XP_011509528.1:p.Asn7439_Val7440insAsn
XM_011511227.1:c.20128_20130dup (NEB)	XP_011509529.1:p.Asn6710_Val6711insAsn
XM_011511227.2:c.20128_20130dup (NEB)	XP_011509529.1:p.Asn6710_Val6711insAsn
XM_017004177.1:c.24391_24393dup (NEB)	XP_016859666.1:p.Asn8131_Val8132insAsn
XM_017004178.1:c.24316_24318dup (NEB)	XP_016859667.1:p.Asn8106_Val8107insAsn
XM_017004179.1:c.24037_24039dup (NEB)	XP_016859668.1:p.Asn8013_Val8014insAsn
XM_017004180.1:c.24037_24039dup (NEB)	XP_016859669.1:p.Asn8013_Val8014insAsn
XM_017004181.1:c.23944_23946dup (NEB)	XP_016859670.1:p.Asn7982_Val7983insAsn
XM_017004182.1:c.23944_23946dup (NEB)	XP_016859671.1:p.Asn7982_Val7983insAsn
XM_017004183.1:c.23851_23853dup (NEB)	XP_016859672.1:p.Asn7951_Val7952insAsn
XM_017004184.1:c.23944_23946dup (NEB)	XP_016859673.1:p.Asn7982_Val7983insAsn
XM_017004185.1:c.23743-1744_23743-1742dup (NEB)	XP_016859674.1:n.23743-1744_23743-1742dup
XR_001738811.2:n.8214-993_8214-991dup (RIF1)
XR_001738812.2:n.8214-993_8214-991dup (RIF1)
XR_001738813.2:n.8214-3550_8214-3548dup (RIF1)
XR_001738814.2:n.8214-5169_8214-5167dup (RIF1)
XR_001738815.2:n.8214-8798_8214-8796dup (RIF1)
XR_001738816.2:n.8213+10901_8213+10903dup (RIF1)
XR_001738817.2:n.8213+10901_8213+10903dup (RIF1)
XR_922954.1:n.7839-993_7839-991dup (RIF1)
XR_922955.1:n.7838+10901_7838+10903dup (RIF1)
XR_922956.1:n.7839-993_7839-991dup (RIF1)
XR_922957.1:n.7839-3550_7839-3548dup (RIF1)