Canonical Allele Identifier: CA567150867

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1561889098
• gnomAD v2: 6-43016074-GCA-G
• gnomAD v4: 6-43048336-GCA-G
• MyVariant Identifiers: chr6:g.43016075_43016076del (hg19) ; chr6:g.43048337_43048338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048339_43048340del , CM000668.2:g.43048339_43048340del	GRCh38
NC_000006.11:g.43016077_43016078del , CM000668.1:g.43016077_43016078del	GRCh37
NC_000006.10:g.43124055_43124056del	NCBI36
NG_016205.1:g.10608_10609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2057_2058del (CUL7)	ENSP00000501166.2:p.Val686AlafsTer?
ENST00000685042.1:c.2057_2058del (CUL7)	ENSP00000509871.1:p.Val686AlafsTer?
ENST00000686442.1:n.2340_2341del (CUL7)
ENST00000687225.1:c.2153_2154del (CUL7)	ENSP00000509364.1:p.Val718AlafsTer?
ENST00000688302.1:n.2340_2341del (CUL7)
ENST00000689256.1:n.2356_2357del (CUL7)
ENST00000690231.1:c.2057_2058del (CUL7)	ENSP00000508461.1:p.Val686AlafsTer?
ENST00000265348.9:c.2057_2058del (CUL7) MANE Select	ENSP00000265348.4:p.Val686AlafsTer?
ENST00000673725.1:c.6_7del (CUL7)
ENST00000673753.1:n.2391_2392del (CUL7)
ENST00000674100.1:c.2153_2154del (CUL7)	ENSP00000501292.1:p.Val718AlafsTer?
ENST00000674112.1:c.549_550del (CUL7)
ENST00000674134.1:c.2153_2154del (CUL7)	ENSP00000501068.1:p.Val718AlafsTer?
ENST00000265348.7:c.2057_2058del (CUL7)	ENSP00000265348.3:p.Val686AlafsTer?
ENST00000467906.5:c.-553+4831_-553+4832del (KLC4)	ENSP00000418759.1:n.-553+4831_-553+4832del
ENST00000535468.1:c.2309_2310del (CUL7)	ENSP00000438788.1:p.Val770AlafsTer?
NM_001168370.1:c.2309_2310del (CUL7)	NP_001161842.1:p.Val770AlafsTer?
NM_014780.4:c.2057_2058del (CUL7)	NP_055595.2:p.Val686AlafsTer?
XM_005249503.1:c.2213_2214del (CUL7)	XP_005249560.1:p.Val738AlafsTer?
XM_006715285.1:c.2153_2154del (CUL7)	XP_006715348.1:p.Val718AlafsTer?
XM_011515019.1:c.2309_2310del (CUL7)	XP_011513321.1:p.Val770AlafsTer?
XM_011515020.1:c.2213_2214del (CUL7)	XP_011513322.1:p.Val738AlafsTer?
XM_011515021.1:c.-126_-125del (CUL7)	XP_011513323.1:n.-126_-125del
XM_005249503.3:c.2213_2214del (CUL7)	XP_005249560.1:p.Val738AlafsTer?
XM_006715285.2:c.2153_2154del (CUL7)	XP_006715348.1:p.Val718AlafsTer?
XM_011515019.2:c.2309_2310del (CUL7)	XP_011513321.1:p.Val770AlafsTer?
XM_011515020.2:c.2213_2214del (CUL7)	XP_011513322.1:p.Val738AlafsTer?
XM_017011533.1:c.2336_2337del (CUL7)	XP_016867022.1:p.Val779AlafsTer?
XM_017011534.1:c.2336_2337del (CUL7)	XP_016867023.1:p.Val779AlafsTer?
XM_017011535.1:c.2240_2241del (CUL7)	XP_016867024.1:p.Val747AlafsTer?
XM_017011536.2:c.2180_2181del (CUL7)	XP_016867025.1:p.Val727AlafsTer?
XM_017011537.2:c.2153_2154del (CUL7)	XP_016867026.1:p.Val718AlafsTer?
XM_017011538.2:c.2084_2085del (CUL7)	XP_016867027.1:p.Val695AlafsTer?
XM_017011539.2:c.2057_2058del (CUL7)	XP_016867028.1:p.Val686AlafsTer?
XM_017011540.1:c.2336_2337del (CUL7)	XP_016867029.1:p.Val779AlafsTer?
NM_001168370.2:c.2153_2154del (CUL7)	NP_001161842.2:p.Val718AlafsTer?
NM_001374872.1:c.2153_2154del (CUL7)	NP_001361801.1:p.Val718AlafsTer?
NM_001374873.1:c.2057_2058del (CUL7)	NP_001361802.1:p.Val686AlafsTer?
NM_001374874.1:c.2057_2058del (CUL7)	NP_001361803.1:p.Val686AlafsTer?
NM_014780.5:c.2057_2058del (CUL7) MANE Select	NP_055595.2:p.Val686AlafsTer?