Linked Data
dbSNP Id:
rs1237173252
gnomAD v3:
18-2922135-AGCCACGGGTCATGTCGGCCAT-A
gnomAD v4:
18-2922135-AGCCACGGGTCATGTCGGCCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2922139_2922159del , CM000680.2:g.2922139_2922159del | GRCh38 |
| NC_000018.9:g.2922137_2922157del , CM000680.1:g.2922137_2922157del | GRCh37 |
| NC_000018.8:g.2912137_2912157del | NCBI36 |
| NG_007507.1:g.94792_94812del , LRG_174:g.94792_94812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261596.9:c.2218_2238del | ENSP00000261596.4:p.Met740_Gly746del | |
| ENST00000697039.1:c.2218_2238del | ENSP00000513061.1:p.Met740_Gly746del | |
| ENST00000697040.1:c.2218_2238del | ENSP00000513062.1:p.Met740_Gly746del | |
| ENST00000697041.1:c.913_933del | ENSP00000513063.1:p.Met305_Gly311del | |
| ENST00000677752.1:c.2218_2238del MANE Select | ENSP00000504857.1:p.Met740_Gly746del | |
| ENST00000261596.8:c.2218_2238del | ENSP00000261596.4:p.Met740_Gly746del | |
| NM_014646.2:c.2218_2238del , LRG_174t1:c.2218_2238del | NP_055461.1:p.Met740_Gly746del | |
| XM_005258177.3:c.2329_2349del | XP_005258234.1:p.Met777_Gly783del | |
| XM_005258178.2:c.2218_2238del | XP_005258235.1:p.Met740_Gly746del | |
| XM_005258179.3:c.2218_2238del | XP_005258236.1:p.Met740_Gly746del | |
| XM_005258177.4:c.2329_2349del | XP_005258234.1:p.Met777_Gly783del | |
| XM_005258178.3:c.2218_2238del | XP_005258235.1:p.Met740_Gly746del | |
| XM_005258179.5:c.2218_2238del | XP_005258236.1:p.Met740_Gly746del | |
| XM_017026098.1:c.2218_2238del | XP_016881587.1:p.Met740_Gly746del | |
| XM_017026099.1:c.2218_2238del | XP_016881588.1:p.Met740_Gly746del | |
| NM_001375808.1:c.2218_2238del | NP_001362737.1:p.Met740_Gly746del | |
| NM_001375809.1:c.2218_2238del | NP_001362738.1:p.Met740_Gly746del | |
| NM_001375808.2:c.2218_2238del MANE Select | NP_001362737.1:p.Met740_Gly746del |