Linked Data
dbSNP Id:
rs2070889662
gnomAD v2:
2-228131086-G-GA
gnomAD v3:
2-227266370-G-GA
gnomAD v4:
2-227266370-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227266377dup , CM000664.2:g.227266377dup | GRCh38 |
| NC_000002.11:g.228131093dup , CM000664.1:g.228131093dup | GRCh37 |
| NC_000002.10:g.227839337dup | NCBI36 |
| NG_011591.1:g.106813dup , LRG_230:g.106813dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.1316-40dup (COL4A3) MANE Select | ENSP00000379823.3:n.1316-40dup | |
| ENST00000396578.7:c.1316-40dup (COL4A3) | ENSP00000379823.3:n.1316-40dup | |
| NM_000091.4:c.1316-40dup , LRG_230t1:c.1316-40dup (COL4A3) | NP_000082.2:n.1316-40dup | |
| NR_102371.1:n.656-436dup (MFF-DT) | ||
| XM_005246276.2:c.1316-40dup (COL4A3) | XP_005246333.1:n.1316-40dup | |
| XM_005246277.2:c.1316-40dup (COL4A3) | XP_005246334.1:n.1316-40dup | |
| XM_005246280.2:c.1316-40dup (COL4A3) | XP_005246337.1:n.1316-40dup | |
| XM_006712245.2:c.1316-40dup (COL4A3) | XP_006712308.1:n.1316-40dup | |
| XM_011510555.1:c.1316-40dup (COL4A3) | XP_011508857.1:n.1316-40dup | |
| XM_011510556.1:c.77-40dup (COL4A3) | XP_011508858.1:n.77-40dup | |
| XR_241280.2:n.1454-40dup (COL4A3) | ||
| XM_005246277.3:c.1316-40dup (COL4A3) | XP_005246334.1:n.1316-40dup | |
| XM_005246280.3:c.1316-40dup (COL4A3) | XP_005246337.1:n.1316-40dup | |
| XM_006712245.3:c.1316-40dup (COL4A3) | XP_006712308.1:n.1316-40dup | |
| XM_011510556.2:c.77-40dup (COL4A3) | XP_011508858.1:n.77-40dup | |
| XM_017003295.1:c.1316-40dup (COL4A3) | XP_016858784.1:n.1316-40dup | |
| XR_001738601.1:n.1454-40dup (COL4A3) | ||
| XR_241280.3:n.1454-40dup (COL4A3) | ||
| NM_000091.5:c.1316-40dup (COL4A3) MANE Select | NP_000082.2:n.1316-40dup |