Linked Data
dbSNP Id:
rs755483473
ExAC:
6:43010872 GC / G
gnomAD v2:
6-43010872-GC-G
gnomAD v3:
6-43043134-GC-G
gnomAD v4:
6-43043134-GC-G
MyVariant Identifiers:
chr6:g.43010873del (hg19)
chr6:g.43043136del (hg38)
chr6:g.43043135del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43043138del , CM000668.2:g.43043138del | GRCh38 |
| NC_000006.11:g.43010876del , CM000668.1:g.43010876del | GRCh37 |
| NC_000006.10:g.43118854del | NCBI36 |
| NG_016205.1:g.15811del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478630.2:n.1472del (CUL7) | ||
| ENST00000674112.2:c.3401del (CUL7) | ENSP00000501166.2:p.Gly1134AlafsTer7 | |
| ENST00000685042.1:c.*57del (CUL7) | ENSP00000509871.1:n.*57del | |
| ENST00000686442.1:n.3962del (CUL7) | ||
| ENST00000687225.1:c.*1698del (CUL7) | ENSP00000509364.1:n.*1698del | |
| ENST00000688302.1:n.3684del (CUL7) | ||
| ENST00000689256.1:n.3978del (CUL7) | ||
| ENST00000690231.1:c.3401del (CUL7) | ENSP00000508461.1:p.Gly1134AlafsTer7 | |
| ENST00000265348.9:c.3401del (CUL7) MANE Select | ENSP00000265348.4:p.Gly1134AlafsTer7 | |
| ENST00000673725.1:c.1350del (CUL7) | ||
| ENST00000673753.1:n.4240del (CUL7) | ||
| ENST00000674100.1:c.3497del (CUL7) | ENSP00000501292.1:p.Gly1166AlafsTer7 | |
| ENST00000674112.1:c.1893del (CUL7) | ||
| ENST00000674134.1:c.3497del (CUL7) | ENSP00000501068.1:p.Gly1166AlafsTer7 | |
| ENST00000265348.7:c.3401del (CUL7) | ENSP00000265348.3:p.Gly1134AlafsTer7 | |
| ENST00000467906.5:c.-923del (KLC4) | ENSP00000418759.1:n.-923del | |
| ENST00000535468.1:c.3653del (CUL7) | ENSP00000438788.1:p.Gly1218AlafsTer7 | |
| NM_001168370.1:c.3653del (CUL7) | NP_001161842.1:p.Gly1218AlafsTer7 | |
| NM_014780.4:c.3401del (CUL7) | NP_055595.2:p.Gly1134AlafsTer7 | |
| XM_005249503.1:c.3557del (CUL7) | XP_005249560.1:p.Gly1186AlafsTer7 | |
| XM_006715285.1:c.3497del (CUL7) | XP_006715348.1:p.Gly1166AlafsTer7 | |
| XM_011515019.1:c.3653del (CUL7) | XP_011513321.1:p.Gly1218AlafsTer7 | |
| XM_011515020.1:c.3557del (CUL7) | XP_011513322.1:p.Gly1186AlafsTer7 | |
| XM_011515021.1:c.1262del (CUL7) | XP_011513323.1:p.Gly421AlafsTer7 | |
| XM_005249503.3:c.3557del (CUL7) | XP_005249560.1:p.Gly1186AlafsTer7 | |
| XM_006715285.2:c.3497del (CUL7) | XP_006715348.1:p.Gly1166AlafsTer7 | |
| XM_011515019.2:c.3653del (CUL7) | XP_011513321.1:p.Gly1218AlafsTer7 | |
| XM_011515020.2:c.3557del (CUL7) | XP_011513322.1:p.Gly1186AlafsTer7 | |
| XM_017011533.1:c.3680del (CUL7) | XP_016867022.1:p.Gly1227AlafsTer7 | |
| XM_017011534.1:c.3680del (CUL7) | XP_016867023.1:p.Gly1227AlafsTer7 | |
| XM_017011535.1:c.3584del (CUL7) | XP_016867024.1:p.Gly1195AlafsTer7 | |
| XM_017011536.2:c.3524del (CUL7) | XP_016867025.1:p.Gly1175AlafsTer7 | |
| XM_017011537.2:c.3497del (CUL7) | XP_016867026.1:p.Gly1166AlafsTer7 | |
| XM_017011538.2:c.3428del (CUL7) | XP_016867027.1:p.Gly1143AlafsTer7 | |
| XM_017011539.2:c.3401del (CUL7) | XP_016867028.1:p.Gly1134AlafsTer7 | |
| NM_001168370.2:c.3497del (CUL7) | NP_001161842.2:p.Gly1166AlafsTer7 | |
| NM_001374872.1:c.3497del (CUL7) | NP_001361801.1:p.Gly1166AlafsTer7 | |
| NM_001374873.1:c.3401del (CUL7) | NP_001361802.1:p.Gly1134AlafsTer7 | |
| NM_001374874.1:c.3398del (CUL7) | NP_001361803.1:p.Gly1133AlafsTer7 | |
| NM_014780.5:c.3401del (CUL7) MANE Select | NP_055595.2:p.Gly1134AlafsTer7 |