Canonical Allele Identifier: CA2573052690

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 1343072
• ClinVar RCV Id: RCV001843674
• dbSNP Id: rs2150316275

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43043111_43043115delinsGAA , CM000668.2:g.43043111_43043115delinsGAA	GRCh38
NC_000006.11:g.43010849_43010853delinsGAA , CM000668.1:g.43010849_43010853delinsGAA	GRCh37
NC_000006.10:g.43118827_43118831delinsGAA	NCBI36
NG_016205.1:g.15831_15835delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1492_1496delinsTTC (CUL7)
ENST00000674112.2:c.3421_3425delinsTTC (CUL7)	ENSP00000501166.2:p.Arg1141PhefsTer25
ENST00000685042.1:c.*77_*81delinsTTC (CUL7)	ENSP00000509871.1:n.*77_*81delinsTTC
ENST00000686442.1:n.3982_3986delinsTTC (CUL7)
ENST00000687225.1:c.*1718_*1722delinsTTC (CUL7)	ENSP00000509364.1:n.*1718_*1722delinsTTC
ENST00000688302.1:n.3704_3708delinsTTC (CUL7)
ENST00000689256.1:n.3998_4002delinsTTC (CUL7)
ENST00000690231.1:c.3421_3425delinsTTC (CUL7)	ENSP00000508461.1:p.Arg1141PhefsTer25
ENST00000265348.9:c.3421_3425delinsTTC (CUL7) MANE Select	ENSP00000265348.4:p.Arg1141PhefsTer25
ENST00000673725.1:c.1370_1374delinsTTC (CUL7)
ENST00000673753.1:n.4260_4264delinsTTC (CUL7)
ENST00000674100.1:c.3517_3521delinsTTC (CUL7)	ENSP00000501292.1:p.Arg1173PhefsTer25
ENST00000674112.1:c.1913_1917delinsTTC (CUL7)
ENST00000674134.1:c.3517_3521delinsTTC (CUL7)	ENSP00000501068.1:p.Arg1173PhefsTer25
ENST00000265348.7:c.3421_3425delinsTTC (CUL7)	ENSP00000265348.3:p.Arg1141PhefsTer25
ENST00000467906.5:c.-950_-946delinsGAA (KLC4)	ENSP00000418759.1:n.-950_-946delinsGAA
ENST00000535468.1:c.3673_3677delinsTTC (CUL7)	ENSP00000438788.1:p.Arg1225PhefsTer25
NM_001168370.1:c.3673_3677delinsTTC (CUL7)	NP_001161842.1:p.Arg1225PhefsTer25
NM_014780.4:c.3421_3425delinsTTC (CUL7)	NP_055595.2:p.Arg1141PhefsTer25
XM_005249503.1:c.3577_3581delinsTTC (CUL7)	XP_005249560.1:p.Arg1193PhefsTer25
XM_006715285.1:c.3517_3521delinsTTC (CUL7)	XP_006715348.1:p.Arg1173PhefsTer25
XM_011515019.1:c.3673_3677delinsTTC (CUL7)	XP_011513321.1:p.Arg1225PhefsTer25
XM_011515020.1:c.3577_3581delinsTTC (CUL7)	XP_011513322.1:p.Arg1193PhefsTer25
XM_011515021.1:c.1282_1286delinsTTC (CUL7)	XP_011513323.1:p.Arg428PhefsTer25
XM_005249503.3:c.3577_3581delinsTTC (CUL7)	XP_005249560.1:p.Arg1193PhefsTer25
XM_006715285.2:c.3517_3521delinsTTC (CUL7)	XP_006715348.1:p.Arg1173PhefsTer25
XM_011515019.2:c.3673_3677delinsTTC (CUL7)	XP_011513321.1:p.Arg1225PhefsTer25
XM_011515020.2:c.3577_3581delinsTTC (CUL7)	XP_011513322.1:p.Arg1193PhefsTer25
XM_017011533.1:c.3700_3704delinsTTC (CUL7)	XP_016867022.1:p.Arg1234PhefsTer25
XM_017011534.1:c.3700_3704delinsTTC (CUL7)	XP_016867023.1:p.Arg1234PhefsTer25
XM_017011535.1:c.3604_3608delinsTTC (CUL7)	XP_016867024.1:p.Arg1202PhefsTer25
XM_017011536.2:c.3544_3548delinsTTC (CUL7)	XP_016867025.1:p.Arg1182PhefsTer25
XM_017011537.2:c.3517_3521delinsTTC (CUL7)	XP_016867026.1:p.Arg1173PhefsTer25
XM_017011538.2:c.3448_3452delinsTTC (CUL7)	XP_016867027.1:p.Arg1150PhefsTer25
XM_017011539.2:c.3421_3425delinsTTC (CUL7)	XP_016867028.1:p.Arg1141PhefsTer25
NM_001168370.2:c.3517_3521delinsTTC (CUL7)	NP_001161842.2:p.Arg1173PhefsTer25
NM_001374872.1:c.3517_3521delinsTTC (CUL7)	NP_001361801.1:p.Arg1173PhefsTer25
NM_001374873.1:c.3421_3425delinsTTC (CUL7)	NP_001361802.1:p.Arg1141PhefsTer25
NM_001374874.1:c.3418_3422delinsTTC (CUL7)	NP_001361803.1:p.Arg1140PhefsTer25
NM_014780.5:c.3421_3425delinsTTC (CUL7) MANE Select	NP_055595.2:p.Arg1141PhefsTer25