Linked Data
ClinVar Variation Id:
1708767
ClinVar RCV Id:
RCV002288051
gnomAD v4:
7-70766247-CCACCAGCACACG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70766259_70766270del , CM000669.2:g.70766259_70766270del | GRCh38 |
| NC_000007.13:g.70231245_70231256del , CM000669.1:g.70231245_70231256del | GRCh37 |
| NC_000007.12:g.69869181_69869192del | NCBI36 |
| NG_034133.1:g.1172341_1172352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1614_1625del MANE Select | ENSP00000344087.4:p.His539_Thr542del | |
| ENST00000443672.2:c.-52_-41del | ENSP00000393548.2:n.-52_-41del | |
| ENST00000644359.1:c.240_251del | ENSP00000494561.1:p.His81_Thr84del | |
| ENST00000644506.1:c.240_251del | ENSP00000496672.1:p.His81_Thr84del | |
| ENST00000644939.1:c.1611_1622del | ENSP00000496726.1:p.His538_Thr541del | |
| ENST00000644949.1:c.26_37del | ||
| ENST00000647140.1:c.458_469del | ||
| ENST00000656200.1:c.240_251del | ENSP00000499508.1:p.His81_Thr84del | |
| ENST00000342771.8:c.1614_1625del | ENSP00000344087.4:p.His539_Thr542del | |
| ENST00000406775.6:c.1614_1625del | ENSP00000385263.2:p.His539_Thr542del | |
| ENST00000443672.1:c.239_250del | ||
| ENST00000481994.1:n.221_232del | ||
| ENST00000611706.4:c.870_881del | ENSP00000478134.1:p.His291_Thr294del | |
| ENST00000615871.4:c.870_881del | ENSP00000479325.1:p.His291_Thr294del | |
| NM_001127231.2:c.1614_1625del | NP_001120703.1:p.His539_Thr542del | |
| NM_015570.3:c.1614_1625del | NP_056385.1:p.His539_Thr542del | |
| XM_005250257.1:c.240_251del | XP_005250314.1:p.His81_Thr84del | |
| XM_011516010.1:c.1614_1625del | XP_011514312.1:p.His539_Thr542del | |
| XM_011516011.1:c.1611_1622del | XP_011514313.1:p.His538_Thr541del | |
| XM_011516012.1:c.1614_1625del | XP_011514314.1:p.His539_Thr542del | |
| XM_011516013.1:c.1614_1625del | XP_011514315.1:p.His539_Thr542del | |
| XM_011516014.1:c.1614_1625del | XP_011514316.1:p.His539_Thr542del | |
| XM_011516015.1:c.1614_1625del | XP_011514317.1:p.His539_Thr542del | |
| XM_011516016.1:c.1323_1334del | XP_011514318.1:p.His442_Thr445del | |
| XM_011516017.1:c.1140_1151del | XP_011514319.1:p.His381_Thr384del | |
| XM_011516018.1:c.1113_1124del | XP_011514320.1:p.His372_Thr375del | |
| XM_005250257.2:c.240_251del | XP_005250314.1:p.His81_Thr84del | |
| XM_011516010.2:c.1614_1625del | XP_011514312.1:p.His539_Thr542del | |
| XM_011516011.2:c.1611_1622del | XP_011514313.1:p.His538_Thr541del | |
| XM_011516012.2:c.1614_1625del | XP_011514314.1:p.His539_Thr542del | |
| XM_011516013.2:c.1614_1625del | XP_011514315.1:p.His539_Thr542del | |
| XM_011516014.2:c.1614_1625del | XP_011514316.1:p.His539_Thr542del | |
| XM_011516017.2:c.1140_1151del | XP_011514319.1:p.His381_Thr384del | |
| XM_011516018.2:c.1113_1124del | XP_011514320.1:p.His372_Thr375del | |
| XM_017011951.2:c.1614_1625del | XP_016867440.1:p.His539_Thr542del | |
| NM_001127231.3:c.1614_1625del | NP_001120703.1:p.His539_Thr542del | |
| NM_015570.4:c.1614_1625del MANE Select | NP_056385.1:p.His539_Thr542del |