Linked Data
dbSNP Id:
rs2095534256
gnomAD v3:
3-53801227-GTCATAACCA-G
gnomAD v4:
3-53801227-GTCATAACCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53801238_53801246del , CM000665.2:g.53801238_53801246del | GRCh38 |
| NC_000003.11:g.53835265_53835273del , CM000665.1:g.53835265_53835273del | GRCh37 |
| NC_000003.10:g.53810305_53810313del | NCBI36 |
| NG_032999.1:g.311190_311198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.5281_5289del | ENSP00000418014.2:p.His1761_His1763del | |
| ENST00000636633.2:n.2220_2228del | ||
| ENST00000636999.2:n.656_664del | ||
| ENST00000288139.11:c.5281_5289del MANE Plus Clinical | ENSP00000288139.3:p.His1761_His1763del | |
| ENST00000350061.11:c.5221_5229del MANE Select | ENSP00000288133.5:p.His1741_His1743del | |
| ENST00000422281.7:c.5176_5184del | ENSP00000409174.2:p.His1726_His1728del | |
| ENST00000636448.1:c.1342_1350del | ||
| ENST00000636570.1:c.5176_5184del | ENSP00000490183.1:p.His1726_His1728del | |
| ENST00000636629.1:n.577_585del | ||
| ENST00000636633.1:n.2220_2228del | ||
| ENST00000636999.1:n.648_656del | ||
| ENST00000637424.1:c.5248_5256del | ENSP00000489769.1:p.His1750_His1752del | |
| ENST00000288139.8:c.5281_5289del | ENSP00000288139.3:p.His1761_His1763del | |
| ENST00000350061.9:c.5221_5229del | ENSP00000288133.5:p.His1741_His1743del | |
| ENST00000422281.6:c.5176_5184del | ENSP00000409174.2:p.His1726_His1728del | |
| ENST00000481478.1:c.4300_4308del | ENSP00000418014.1:p.His1434_His1436del | |
| NM_000720.3:c.5281_5289del | NP_000711.1:p.His1761_His1763del | |
| NM_001128839.2:c.5176_5184del | NP_001122311.1:p.His1726_His1728del | |
| NM_001128840.2:c.5221_5229del | NP_001122312.1:p.His1741_His1743del | |
| XM_005265448.2:c.5176_5184del | XP_005265505.1:p.His1726_His1728del | |
| XM_011534094.1:c.5476_5484del | XP_011532396.1:p.His1826_His1828del | |
| XM_011534095.1:c.5365_5373del | XP_011532397.1:p.His1789_His1791del | |
| XM_011534096.1:c.5287_5295del | XP_011532398.1:p.His1763_His1765del | |
| XM_011534097.1:c.4939_4947del | XP_011532399.1:p.His1647_His1649del | |
| XM_011534098.1:c.4939_4947del | XP_011532400.1:p.His1647_His1649del | |
| XM_011534099.1:c.4564_4572del | XP_011532401.1:p.His1522_His1524del | |
| XM_011534100.1:c.5371_5379del | XP_011532402.1:p.His1791_His1793del | |
| XM_005265448.3:c.5176_5184del | XP_005265505.1:p.His1726_His1728del | |
| XM_011534094.2:c.5476_5484del | XP_011532396.1:p.His1826_His1828del | |
| XM_011534096.2:c.5287_5295del | XP_011532398.1:p.His1763_His1765del | |
| XM_011534097.2:c.4939_4947del | XP_011532399.1:p.His1647_His1649del | |
| XM_011534099.2:c.4564_4572del | XP_011532401.1:p.His1522_His1524del | |
| XM_011534100.2:c.5371_5379del | XP_011532402.1:p.His1791_His1793del | |
| XM_017007137.1:c.5476_5484del | XP_016862626.1:p.His1826_His1828del | |
| XM_017007138.1:c.5473_5481del | XP_016862627.1:p.His1825_His1827del | |
| XM_017007139.1:c.5476_5484del | XP_016862628.1:p.His1826_His1828del | |
| XM_017007140.1:c.5416_5424del | XP_016862629.1:p.His1806_His1808del | |
| XM_017007141.1:c.5416_5424del | XP_016862630.1:p.His1806_His1808del | |
| XM_017007142.1:c.5392_5400del | XP_016862631.1:p.His1798_His1800del | |
| XM_017007143.1:c.5392_5400del | XP_016862632.1:p.His1798_His1800del | |
| XM_017007144.1:c.5392_5400del | XP_016862633.1:p.His1798_His1800del | |
| XM_017007145.1:c.5347_5355del | XP_016862634.1:p.His1783_His1785del | |
| NM_001128840.3:c.5221_5229del MANE Select | NP_001122312.1:p.His1741_His1743del | |
| NM_000720.4:c.5281_5289del MANE Plus Clinical | NP_000711.1:p.His1761_His1763del | |
| NM_001128839.3:c.5176_5184del | NP_001122311.1:p.His1726_His1728del |