Linked Data
ClinVar Variation Id:
1618
dbSNP Id:
rs730880262
ExAC:
6:43010893 CCA / C
gnomAD v2:
6-43010893-CCA-C
gnomAD v4:
6-43043155-CCA-C
PubMed:
PMID:19225462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43043156_43043157del , CM000668.2:g.43043156_43043157del | GRCh38 |
| NC_000006.11:g.43010894_43010895del , CM000668.1:g.43010894_43010895del | GRCh37 |
| NC_000006.10:g.43118872_43118873del | NCBI36 |
| NG_016205.1:g.15789_15790del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1450_1451del (CUL7) | ||
| ENST00000674112.2:c.3379_3380del (CUL7) | ENSP00000501166.2:p.Trp1127GlufsTer? | |
| ENST00000685042.1:c.*35_*36del (CUL7) | ENSP00000509871.1:n.*35_*36del | |
| ENST00000686442.1:n.3940_3941del (CUL7) | ||
| ENST00000687225.1:c.*1676_*1677del (CUL7) | ENSP00000509364.1:n.*1676_*1677del | |
| ENST00000688302.1:n.3662_3663del (CUL7) | ||
| ENST00000689256.1:n.3956_3957del (CUL7) | ||
| ENST00000690231.1:c.3379_3380del (CUL7) | ENSP00000508461.1:p.Trp1127GlufsTer? | |
| ENST00000265348.9:c.3379_3380del (CUL7) MANE Select | ENSP00000265348.4:p.Trp1127GlufsTer? | |
| ENST00000673725.1:c.1328_1329del (CUL7) | ||
| ENST00000673753.1:n.4218_4219del (CUL7) | ||
| ENST00000674100.1:c.3475_3476del (CUL7) | ENSP00000501292.1:p.Trp1159GlufsTer? | |
| ENST00000674112.1:c.1871_1872del (CUL7) | ||
| ENST00000674134.1:c.3475_3476del (CUL7) | ENSP00000501068.1:p.Trp1159GlufsTer? | |
| ENST00000265348.7:c.3379_3380del (CUL7) | ENSP00000265348.3:p.Trp1127GlufsTer? | |
| ENST00000467906.5:c.-905_-904del (KLC4) | ENSP00000418759.1:n.-905_-904del | |
| ENST00000535468.1:c.3631_3632del (CUL7) | ENSP00000438788.1:p.Trp1211GlufsTer? | |
| NM_001168370.1:c.3631_3632del (CUL7) | NP_001161842.1:p.Trp1211GlufsTer? | |
| NM_014780.4:c.3379_3380del (CUL7) | NP_055595.2:p.Trp1127GlufsTer? | |
| XM_005249503.1:c.3535_3536del (CUL7) | XP_005249560.1:p.Trp1179GlufsTer? | |
| XM_006715285.1:c.3475_3476del (CUL7) | XP_006715348.1:p.Trp1159GlufsTer? | |
| XM_011515019.1:c.3631_3632del (CUL7) | XP_011513321.1:p.Trp1211GlufsTer? | |
| XM_011515020.1:c.3535_3536del (CUL7) | XP_011513322.1:p.Trp1179GlufsTer? | |
| XM_011515021.1:c.1240_1241del (CUL7) | XP_011513323.1:p.Trp414GlufsTer? | |
| XM_005249503.3:c.3535_3536del (CUL7) | XP_005249560.1:p.Trp1179GlufsTer? | |
| XM_006715285.2:c.3475_3476del (CUL7) | XP_006715348.1:p.Trp1159GlufsTer? | |
| XM_011515019.2:c.3631_3632del (CUL7) | XP_011513321.1:p.Trp1211GlufsTer? | |
| XM_011515020.2:c.3535_3536del (CUL7) | XP_011513322.1:p.Trp1179GlufsTer? | |
| XM_017011533.1:c.3658_3659del (CUL7) | XP_016867022.1:p.Trp1220GlufsTer? | |
| XM_017011534.1:c.3658_3659del (CUL7) | XP_016867023.1:p.Trp1220GlufsTer? | |
| XM_017011535.1:c.3562_3563del (CUL7) | XP_016867024.1:p.Trp1188GlufsTer? | |
| XM_017011536.2:c.3502_3503del (CUL7) | XP_016867025.1:p.Trp1168GlufsTer? | |
| XM_017011537.2:c.3475_3476del (CUL7) | XP_016867026.1:p.Trp1159GlufsTer? | |
| XM_017011538.2:c.3406_3407del (CUL7) | XP_016867027.1:p.Trp1136GlufsTer? | |
| XM_017011539.2:c.3379_3380del (CUL7) | XP_016867028.1:p.Trp1127GlufsTer? | |
| NM_001168370.2:c.3475_3476del (CUL7) | NP_001161842.2:p.Trp1159GlufsTer? | |
| NM_001374872.1:c.3475_3476del (CUL7) | NP_001361801.1:p.Trp1159GlufsTer? | |
| NM_001374873.1:c.3379_3380del (CUL7) | NP_001361802.1:p.Trp1127GlufsTer? | |
| NM_001374874.1:c.3376_3377del (CUL7) | NP_001361803.1:p.Trp1126GlufsTer? | |
| NM_014780.5:c.3379_3380del (CUL7) MANE Select | NP_055595.2:p.Trp1127GlufsTer? |