Canonical Allele Identifier: CA2557903013
Gene: CUL7 HGNC NCBI
KLC4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43047971_43047972insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC , CM000668.2:g.43047971_43047972insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC GRCh38
NC_000006.11:g.43015709_43015710insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC , CM000668.1:g.43015709_43015710insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC GRCh37
NC_000006.10:g.43123687_43123688insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC NCBI36
NG_016205.1:g.10974_10975insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000478630.2:n.31_32insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000674112.2:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000501166.2:n.2169+176_2169+177insGGATAAAACAACCCAAATCAT...
ENST00000685042.1:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000509871.1:n.2169+176_2169+177insGGATAAAACAACCCAAATCAT...
ENST00000686442.1:n.2452+176_2452+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000687225.1:c.2283_2284insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000509364.1:p.Ser762GlyfsTer2
ENST00000688302.1:n.2452+176_2452+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000689256.1:n.2468+176_2468+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000690231.1:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000508461.1:n.2169+176_2169+177insGGATAAAACAACCCAAATCAT...
ENST00000265348.9:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) MANE Select ENSP00000265348.4:n.2169+176_2169+177insGGATAAAACAACCCAAATCAT...
ENST00000673725.1:c.118+176_118+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000673753.1:n.2521_2522insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000674100.1:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000501292.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCAT...
ENST00000674112.1:c.661+176_661+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000674134.1:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000501068.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCAT...
ENST00000265348.7:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000265348.3:n.2169+176_2169+177insGGATAAAACAACCCAAATCAT...
ENST00000467906.5:c.-553+4463_-553+4464insCAAATTGGTCTACTAACTGGGGCACGTGCGCTTTGATTCCTTCTTGCTGCTCAGGGCTCAGCTTCTCAAGAAAGGTCAAGGTCTTGTCTGAGCCAGTATTGGTCTCGATGATTTGGGTTGTTTTATCC (KLC4) ENSP00000418759.1:n.-553+4463_-553+4464insCAAATTGGTCTACTAACTG...
ENST00000478630.1:n.31_32insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7)
ENST00000535468.1:c.2421+176_2421+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) ENSP00000438788.1:n.2421+176_2421+177insGGATAAAACAACCCAAATCAT...
NM_001168370.1:c.2421+176_2421+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_001161842.1:n.2421+176_2421+177insGGATAAAACAACCCAAATCATCGA...
NM_014780.4:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_055595.2:n.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGAC...
XM_005249503.1:c.2325+176_2325+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_005249560.1:n.2325+176_2325+177insGGATAAAACAACCCAAATCATCGA...
XM_006715285.1:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_006715348.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCATCGA...
XM_011515019.1:c.2421+176_2421+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_011513321.1:n.2421+176_2421+177insGGATAAAACAACCCAAATCATCGA...
XM_011515020.1:c.2325+176_2325+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_011513322.1:n.2325+176_2325+177insGGATAAAACAACCCAAATCATCGA...
XM_011515021.1:c.5_6insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_011513323.1:p.His3AspfsTer56
XM_005249503.3:c.2325+176_2325+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_005249560.1:n.2325+176_2325+177insGGATAAAACAACCCAAATCATCGA...
XM_006715285.2:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_006715348.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCATCGA...
XM_011515019.2:c.2421+176_2421+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_011513321.1:n.2421+176_2421+177insGGATAAAACAACCCAAATCATCGA...
XM_011515020.2:c.2325+176_2325+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_011513322.1:n.2325+176_2325+177insGGATAAAACAACCCAAATCATCGA...
XM_017011533.1:c.2448+176_2448+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867022.1:n.2448+176_2448+177insGGATAAAACAACCCAAATCATCGA...
XM_017011534.1:c.2448+176_2448+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867023.1:n.2448+176_2448+177insGGATAAAACAACCCAAATCATCGA...
XM_017011535.1:c.2352+176_2352+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867024.1:n.2352+176_2352+177insGGATAAAACAACCCAAATCATCGA...
XM_017011536.2:c.2292+176_2292+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867025.1:n.2292+176_2292+177insGGATAAAACAACCCAAATCATCGA...
XM_017011537.2:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867026.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCATCGA...
XM_017011538.2:c.2196+176_2196+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867027.1:n.2196+176_2196+177insGGATAAAACAACCCAAATCATCGA...
XM_017011539.2:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867028.1:n.2169+176_2169+177insGGATAAAACAACCCAAATCATCGA...
XM_017011540.1:c.2448+176_2448+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) XP_016867029.1:n.2448+176_2448+177insGGATAAAACAACCCAAATCATCGA...
NM_001168370.2:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_001161842.2:n.2265+176_2265+177insGGATAAAACAACCCAAATCATCGA...
NM_001374872.1:c.2265+176_2265+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_001361801.1:n.2265+176_2265+177insGGATAAAACAACCCAAATCATCGA...
NM_001374873.1:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_001361802.1:n.2169+176_2169+177insGGATAAAACAACCCAAATCATCGA...
NM_001374874.1:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) NP_001361803.1:n.2169+176_2169+177insGGATAAAACAACCCAAATCATCGA...
NM_014780.5:c.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGACCAATACTGGCTCAGACAAGACCTTGACCTTTCTTGAGAAGCTGAGCCCTGAGCAGCAAGAAGGAATCAAAGCGCACGTGCCCCAGTTAGTAGACCAATTTG (CUL7) MANE Select NP_055595.2:n.2169+176_2169+177insGGATAAAACAACCCAAATCATCGAGAC...
Search 100 bp 5'
Search 100 bp 3'