Canonical Allele Identifier: CA658657594

Gene: CUL7 KLC4

Linked Data

• ClinVar Variation Id: 450651
• ClinVar RCV Id: RCV000519666
• dbSNP Id: rs1554138553

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048186_43048187delinsCAGGCA , CM000668.2:g.43048186_43048187delinsCAGGCA	GRCh38
NC_000006.11:g.43015924_43015925delinsCAGGCA , CM000668.1:g.43015924_43015925delinsCAGGCA	GRCh37
NC_000006.10:g.43123902_43123903delinsCAGGCA	NCBI36
NG_016205.1:g.10759_10760delinsTGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.2130_2131delinsTGCCTG (CUL7)	ENSP00000501166.2:p.Cys711AlafsTer12
ENST00000685042.1:c.2130_2131delinsTGCCTG (CUL7)	ENSP00000509871.1:p.Cys711AlafsTer12
ENST00000686442.1:n.2413_2414delinsTGCCTG (CUL7)
ENST00000687225.1:c.2226_2227delinsTGCCTG (CUL7)	ENSP00000509364.1:p.Cys743AlafsTer12
ENST00000688302.1:n.2413_2414delinsTGCCTG (CUL7)
ENST00000689256.1:n.2429_2430delinsTGCCTG (CUL7)
ENST00000690231.1:c.2130_2131delinsTGCCTG (CUL7)	ENSP00000508461.1:p.Cys711AlafsTer12
ENST00000265348.9:c.2130_2131delinsTGCCTG (CUL7) MANE Select	ENSP00000265348.4:p.Cys711AlafsTer12
ENST00000673725.1:c.79_80delinsTGCCTG (CUL7)
ENST00000673753.1:n.2464_2465delinsTGCCTG (CUL7)
ENST00000674100.1:c.2226_2227delinsTGCCTG (CUL7)	ENSP00000501292.1:p.Cys743AlafsTer12
ENST00000674112.1:c.622_623delinsTGCCTG (CUL7)
ENST00000674134.1:c.2226_2227delinsTGCCTG (CUL7)	ENSP00000501068.1:p.Cys743AlafsTer12
ENST00000265348.7:c.2130_2131delinsTGCCTG (CUL7)	ENSP00000265348.3:p.Cys711AlafsTer12
ENST00000467906.5:c.-553+4678_-553+4679delinsCAGGCA (KLC4)	ENSP00000418759.1:n.-553+4678_-553+4679delinsCAGGCA
ENST00000535468.1:c.2382_2383delinsTGCCTG (CUL7)	ENSP00000438788.1:p.Cys795AlafsTer12
NM_001168370.1:c.2382_2383delinsTGCCTG (CUL7)	NP_001161842.1:p.Cys795AlafsTer12
NM_014780.4:c.2130_2131delinsTGCCTG (CUL7)	NP_055595.2:p.Cys711AlafsTer12
XM_005249503.1:c.2286_2287delinsTGCCTG (CUL7)	XP_005249560.1:p.Cys763AlafsTer12
XM_006715285.1:c.2226_2227delinsTGCCTG (CUL7)	XP_006715348.1:p.Cys743AlafsTer12
XM_011515019.1:c.2382_2383delinsTGCCTG (CUL7)	XP_011513321.1:p.Cys795AlafsTer12
XM_011515020.1:c.2286_2287delinsTGCCTG (CUL7)	XP_011513322.1:p.Cys763AlafsTer12
XM_011515021.1:c.-53_-52delinsTGCCTG (CUL7)	XP_011513323.1:n.-53_-52delinsTGCCTG
XM_005249503.3:c.2286_2287delinsTGCCTG (CUL7)	XP_005249560.1:p.Cys763AlafsTer12
XM_006715285.2:c.2226_2227delinsTGCCTG (CUL7)	XP_006715348.1:p.Cys743AlafsTer12
XM_011515019.2:c.2382_2383delinsTGCCTG (CUL7)	XP_011513321.1:p.Cys795AlafsTer12
XM_011515020.2:c.2286_2287delinsTGCCTG (CUL7)	XP_011513322.1:p.Cys763AlafsTer12
XM_017011533.1:c.2409_2410delinsTGCCTG (CUL7)	XP_016867022.1:p.Cys804AlafsTer12
XM_017011534.1:c.2409_2410delinsTGCCTG (CUL7)	XP_016867023.1:p.Cys804AlafsTer12
XM_017011535.1:c.2313_2314delinsTGCCTG (CUL7)	XP_016867024.1:p.Cys772AlafsTer12
XM_017011536.2:c.2253_2254delinsTGCCTG (CUL7)	XP_016867025.1:p.Cys752AlafsTer12
XM_017011537.2:c.2226_2227delinsTGCCTG (CUL7)	XP_016867026.1:p.Cys743AlafsTer12
XM_017011538.2:c.2157_2158delinsTGCCTG (CUL7)	XP_016867027.1:p.Cys720AlafsTer12
XM_017011539.2:c.2130_2131delinsTGCCTG (CUL7)	XP_016867028.1:p.Cys711AlafsTer12
XM_017011540.1:c.2409_2410delinsTGCCTG (CUL7)	XP_016867029.1:p.Cys804AlafsTer12
NM_001168370.2:c.2226_2227delinsTGCCTG (CUL7)	NP_001161842.2:p.Cys743AlafsTer12
NM_001374872.1:c.2226_2227delinsTGCCTG (CUL7)	NP_001361801.1:p.Cys743AlafsTer12
NM_001374873.1:c.2130_2131delinsTGCCTG (CUL7)	NP_001361802.1:p.Cys711AlafsTer12
NM_001374874.1:c.2130_2131delinsTGCCTG (CUL7)	NP_001361803.1:p.Cys711AlafsTer12
NM_014780.5:c.2130_2131delinsTGCCTG (CUL7) MANE Select	NP_055595.2:p.Cys711AlafsTer12