Linked Data
ClinVar Variation Id:
4720
dbSNP Id:
rs267607236
gnomAD v2:
22-50515269-CTGAG-C
gnomAD v3:
22-50076840-CTGAG-C
gnomAD v4:
22-50076840-CTGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50076842_50076845del , CM000684.2:g.50076842_50076845del | GRCh38 |
| NC_000022.10:g.50515271_50515274del , CM000684.1:g.50515271_50515274del | GRCh37 |
| NC_000022.9:g.48857398_48857401del | NCBI36 |
| NG_009162.1:g.14086_14089del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311597.10:c.594_597del MANE Select | ENSP00000310375.6:p.Tyr198Ter | |
| ENST00000311597.9:c.594_597del | ENSP00000310375.5:p.Tyr198Ter | |
| ENST00000395876.6:c.594_597del | ENSP00000379216.2:p.Tyr198Ter | |
| ENST00000442311.1:c.504_507del | ENSP00000401385.1:p.Tyr168Ter | |
| NM_015166.3:c.594_597del | NP_055981.1:p.Tyr198Ter | |
| NM_139202.2:c.594_597del | NP_631941.1:p.Tyr198Ter | |
| XM_011530678.1:c.594_597del | XP_011528980.1:p.Tyr198Ter | |
| XR_430476.2:n.989_992del | ||
| XM_011530678.2:c.594_597del | XP_011528980.1:p.Tyr198Ter | |
| XM_017028671.1:c.594_597del | XP_016884160.1:p.Tyr198Ter | |
| XR_001755180.2:n.1099_1102del | ||
| XR_001755181.2:n.867_870del | ||
| NM_001376472.1:c.594_597del | NP_001363401.1:p.Tyr198Ter | |
| NM_001376473.1:c.594_597del | NP_001363402.1:p.Tyr198Ter | |
| NM_001376474.1:c.594_597del | NP_001363403.1:p.Tyr198Ter | |
| NM_001376475.1:c.594_597del | NP_001363404.1:p.Tyr198Ter | |
| NM_001376476.1:c.594_597del | NP_001363405.1:p.Tyr198Ter | |
| NM_001376477.1:c.594_597del | NP_001363406.1:p.Tyr198Ter | |
| NM_001376478.1:c.594_597del | NP_001363407.1:p.Tyr198Ter | |
| NM_001376479.1:c.594_597del | NP_001363408.1:p.Tyr198Ter | |
| NM_001376480.1:c.504_507del | NP_001363409.1:p.Tyr168Ter | |
| NM_001376481.1:c.492_495del | NP_001363410.1:p.Tyr164Ter | |
| NM_001376482.1:c.438_441del | NP_001363411.1:p.Tyr146Ter | |
| NM_001376483.1:c.438_441del | NP_001363412.1:p.Tyr146Ter | |
| NM_001376484.1:c.357_360del | NP_001363413.1:p.Tyr119Ter | |
| NM_015166.4:c.594_597del MANE Select | NP_055981.1:p.Tyr198Ter | |
| NM_139202.3:c.594_597del | NP_631941.1:p.Tyr198Ter | |
| NR_164811.1:n.941_944del | ||
| NR_164812.1:n.725_728del | ||
| NR_164813.1:n.1118_1121del |