Linked Data
dbSNP Id:
rs1346164840
gnomAD v2:
12-121435375-CCCT-C
gnomAD v3:
12-120997572-CCCT-C
gnomAD v4:
12-120997572-CCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997576_120997578del , CM000674.2:g.120997576_120997578del | GRCh38 |
| NC_000012.11:g.121435379_121435381del , CM000674.1:g.121435379_121435381del | GRCh37 |
| NC_000012.10:g.119919762_119919764del | NCBI36 |
| NG_011731.2:g.23831_23833del , LRG_522:g.23831_23833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*159_*161del | ENSP00000453965.2:n.*159_*161del | |
| ENST00000257555.11:c.1412_1414del MANE Select | ENSP00000257555.5:p.Ser471del | |
| ENST00000257555.10:c.1412_1414del | ENSP00000257555.4:p.Ser471del | |
| ENST00000400024.6:c.1412_1414del | ENSP00000476181.1:p.Ser471del | |
| ENST00000402929.5:n.2278_2280del | ||
| ENST00000535955.5:n.128_130del | ||
| ENST00000538626.2:n.276_278del | ||
| ENST00000538646.5:c.*388_*390del | ENSP00000443964.1:n.*388_*390del | |
| ENST00000540108.1:c.*852_*854del | ENSP00000445445.1:n.*852_*854del | |
| ENST00000541395.5:c.1412_1414del | ENSP00000443112.1:p.Ser471del | |
| ENST00000541924.5:c.*426_*428del | ENSP00000440361.1:n.*426_*428del | |
| ENST00000543255.1:n.456_458del | ||
| ENST00000543427.5:c.875_877del | ENSP00000439721.2:p.Ser292del | |
| ENST00000544413.2:c.1412_1414del | ENSP00000438804.1:p.Ser471del | |
| ENST00000544574.5:c.*175_*177del | ENSP00000438565.1:n.*175_*177del | |
| ENST00000560968.5:c.1229_1231del | ||
| ENST00000615446.4:c.200_202del | ENSP00000483994.1:p.Ser67del | |
| ENST00000617366.4:c.587-58_587-56del | ENSP00000481967.1:n.587-58_587-56del | |
| NM_000545.5:c.1412_1414del , LRG_522t1:c.1412_1414del | NP_000536.5:p.Ser471del | |
| NM_000545.6:c.1412_1414del | NP_000536.5:p.Ser471del | |
| NM_001306179.1:c.1412_1414del | NP_001293108.1:p.Ser471del | |
| XM_005253931.2:c.1412_1414del | XP_005253988.1:p.Ser471del | |
| XM_024449168.1:c.1412_1414del | XP_024304936.1:p.Ser471del | |
| NM_000545.8:c.1412_1414del MANE Select | NP_000536.6:p.Ser471del | |
| NM_001306179.2:c.1412_1414del | NP_001293108.2:p.Ser471del |