Canonical Allele Identifier: CA2678806165

Gene: CUL7 KLC4

Linked Data

• gnomAD v4: 6-43042865-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43042869_43042871del , CM000668.2:g.43042869_43042871del	GRCh38
NC_000006.11:g.43010607_43010609del , CM000668.1:g.43010607_43010609del	GRCh37
NC_000006.10:g.43118585_43118587del	NCBI36
NG_016205.1:g.16078_16080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.1650_1652del (CUL7)
ENST00000674112.2:c.3579_3581del (CUL7)	ENSP00000501166.2:p.Phe1193del
ENST00000685042.1:c.*235_*237del (CUL7)	ENSP00000509871.1:n.*235_*237del
ENST00000686442.1:n.4140_4142del (CUL7)
ENST00000687225.1:c.*1876_*1878del (CUL7)	ENSP00000509364.1:n.*1876_*1878del
ENST00000688302.1:n.3862_3864del (CUL7)
ENST00000689256.1:n.4156_4158del (CUL7)
ENST00000690231.1:c.3579_3581del (CUL7)	ENSP00000508461.1:p.Phe1193del
ENST00000265348.9:c.3579_3581del (CUL7) MANE Select	ENSP00000265348.4:p.Phe1193del
ENST00000673725.1:c.1450_1452del (CUL7)
ENST00000673753.1:n.4418_4420del (CUL7)
ENST00000674100.1:c.3675_3677del (CUL7)	ENSP00000501292.1:p.Phe1225del
ENST00000674112.1:c.2071_2073del (CUL7)
ENST00000674134.1:c.3675_3677del (CUL7)	ENSP00000501068.1:p.Phe1225del
ENST00000265348.7:c.3579_3581del (CUL7)	ENSP00000265348.3:p.Phe1193del
ENST00000467906.5:c.-1003-189_-1003-187del (KLC4)	ENSP00000418759.1:n.-1003-189_-1003-187del
ENST00000535468.1:c.3831_3833del (CUL7)	ENSP00000438788.1:p.Phe1277del
NM_001168370.1:c.3831_3833del (CUL7)	NP_001161842.1:p.Phe1277del
NM_014780.4:c.3579_3581del (CUL7)	NP_055595.2:p.Phe1193del
XM_005249503.1:c.3735_3737del (CUL7)	XP_005249560.1:p.Phe1245del
XM_006715285.1:c.3675_3677del (CUL7)	XP_006715348.1:p.Phe1225del
XM_011515019.1:c.3831_3833del (CUL7)	XP_011513321.1:p.Phe1277del
XM_011515020.1:c.3735_3737del (CUL7)	XP_011513322.1:p.Phe1245del
XM_011515021.1:c.1440_1442del (CUL7)	XP_011513323.1:p.Phe480del
XM_005249503.3:c.3735_3737del (CUL7)	XP_005249560.1:p.Phe1245del
XM_006715285.2:c.3675_3677del (CUL7)	XP_006715348.1:p.Phe1225del
XM_011515019.2:c.3831_3833del (CUL7)	XP_011513321.1:p.Phe1277del
XM_011515020.2:c.3735_3737del (CUL7)	XP_011513322.1:p.Phe1245del
XM_017011533.1:c.3858_3860del (CUL7)	XP_016867022.1:p.Phe1286del
XM_017011534.1:c.3858_3860del (CUL7)	XP_016867023.1:p.Phe1286del
XM_017011535.1:c.3762_3764del (CUL7)	XP_016867024.1:p.Phe1254del
XM_017011536.2:c.3702_3704del (CUL7)	XP_016867025.1:p.Phe1234del
XM_017011537.2:c.3675_3677del (CUL7)	XP_016867026.1:p.Phe1225del
XM_017011538.2:c.3606_3608del (CUL7)	XP_016867027.1:p.Phe1202del
XM_017011539.2:c.3579_3581del (CUL7)	XP_016867028.1:p.Phe1193del
NM_001168370.2:c.3675_3677del (CUL7)	NP_001161842.2:p.Phe1225del
NM_001374872.1:c.3675_3677del (CUL7)	NP_001361801.1:p.Phe1225del
NM_001374873.1:c.3579_3581del (CUL7)	NP_001361802.1:p.Phe1193del
NM_001374874.1:c.3576_3578del (CUL7)	NP_001361803.1:p.Phe1192del
NM_014780.5:c.3579_3581del (CUL7) MANE Select	NP_055595.2:p.Phe1193del