Linked Data
dbSNP Id:
rs1574326306
gnomAD v3:
2-192049679-C-CAAGATTTCAAAAGCAAGCA
gnomAD v4:
2-192049679-C-CAAGATTTCAAAAGCAAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.192049687_192049705dup , CM000664.2:g.192049687_192049705dup | GRCh38 |
| NC_000002.11:g.192914413_192914431dup , CM000664.1:g.192914413_192914431dup | GRCh37 |
| NC_000002.10:g.192622658_192622676dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272771.10:c.536+7981_536+7999dup MANE Select | ENSP00000272771.5:n.536+7981_536+7999dup | |
| ENST00000272771.9:c.536+7981_536+7999dup | ENSP00000272771.5:n.536+7981_536+7999dup | |
| ENST00000392314.5:c.536+7981_536+7999dup | ENSP00000376128.1:n.536+7981_536+7999dup | |
| NM_001305134.1:c.536+7981_536+7999dup | NP_001292063.1:n.536+7981_536+7999dup | |
| NM_016192.2:c.536+7981_536+7999dup | NP_057276.2:n.536+7981_536+7999dup | |
| NM_016192.3:c.536+7981_536+7999dup | NP_057276.2:n.536+7981_536+7999dup | |
| XM_005246437.2:c.536+7981_536+7999dup | XP_005246494.1:n.536+7981_536+7999dup | |
| XM_011510890.1:c.509+7981_509+7999dup | XP_011509192.1:n.509+7981_509+7999dup | |
| XR_923721.1:n.171+839_171+857dup | ||
| XR_923722.1:n.171+839_171+857dup | ||
| XM_011510890.3:c.509+7981_509+7999dup | XP_011509192.1:n.509+7981_509+7999dup | |
| XM_017003739.2:c.509+7981_509+7999dup | XP_016859228.1:n.509+7981_509+7999dup | |
| XM_017003740.2:c.536+7981_536+7999dup | XP_016859229.1:n.536+7981_536+7999dup | |
| XR_001739830.1:n.171+839_171+857dup | ||
| NM_016192.4:c.536+7981_536+7999dup MANE Select | NP_057276.2:n.536+7981_536+7999dup | |
| NM_001305134.2:c.536+7981_536+7999dup | NP_001292063.1:n.536+7981_536+7999dup |