Linked Data
ClinVar Variation Id:
202501
ClinVar RCV Id:
RCV000184370
RCV000209800
RCV000226275
RCV000506593
RCV001798647
RCV002056967
RCV002336478
RCV003333045
RCV003333046
RCV003333047
RCV003333043
RCV003333042
RCV003333044
dbSNP Id:
rs756433029
gnomAD v2:
2-179641961-CTTTCA-C
gnomAD v3:
2-178777234-CTTTCA-C
gnomAD v4:
2-178777234-CTTTCA-C
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178777240_178777244del , CM000664.2:g.178777240_178777244del | GRCh38 |
| NC_000002.11:g.179641967_179641971del , CM000664.1:g.179641967_179641971del | GRCh37 |
| NC_000002.10:g.179350212_179350216del | NCBI36 |
| NG_011618.3:g.58564_58568del , LRG_391:g.58564_58568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.4724_4728del | ENSP00000343764.6:p.Met1575SerfsTer6 | |
| ENST00000342175.11:c.4586_4590del | ENSP00000340554.6:p.Met1529SerfsTer6 | |
| ENST00000359218.10:c.4586_4590del | ENSP00000352154.5:p.Met1529SerfsTer6 | |
| ENST00000360870.10:c.4724_4728del MANE Plus Clinical | ENSP00000354117.4:p.Met1575SerfsTer6 | |
| ENST00000342175.10:c.4586_4590del | ENSP00000340554.6:p.Met1529SerfsTer6 | |
| ENST00000342992.10:c.4724_4728del | ENSP00000343764.6:p.Met1575SerfsTer6 | |
| ENST00000359218.9:c.4586_4590del | ENSP00000352154.5:p.Met1529SerfsTer6 | |
| ENST00000360870.9:c.4724_4728del | ENSP00000354117.4:p.Met1575SerfsTer6 | |
| ENST00000460472.6:c.4586_4590del | ENSP00000434586.1:p.Met1529SerfsTer6 | |
| ENST00000589042.5:c.4724_4728del MANE Select | ENSP00000467141.1:p.Met1575SerfsTer6 | |
| ENST00000591111.5:c.4724_4728del | ENSP00000465570.1:p.Met1575SerfsTer6 | |
| ENST00000615779.4:c.4724_4728del | ENSP00000483597.1:p.Met1575SerfsTer6 | |
| NM_001256850.1:c.4724_4728del | NP_001243779.1:p.Met1575SerfsTer6 | |
| NM_001267550.2:c.4724_4728del MANE Select | NP_001254479.2:p.Met1575SerfsTer6 | |
| NM_003319.4:c.4586_4590del | NP_003310.4:p.Met1529SerfsTer6 | |
| NM_133378.4:c.4724_4728del | NP_596869.4:p.Met1575SerfsTer6 | |
| NM_133379.4:c.4724_4728del , LRG_391t2:c.4724_4728del | NP_596870.2:p.Met1575SerfsTer6 | |
| NM_133432.3:c.4586_4590del | NP_597676.3:p.Met1529SerfsTer6 | |
| NM_133437.4:c.4586_4590del | NP_597681.4:p.Met1529SerfsTer6 | |
| NR_120594.1:n.315_319del | ||
| XM_011511729.1:c.4772_4776del | XP_011510031.1:p.Met1591SerfsTer6 | |
| XM_011511730.1:c.4772_4776del | XP_011510032.1:p.Met1591SerfsTer6 | |
| XM_011511731.1:c.4631_4635del | XP_011510033.1:p.Met1544SerfsTer6 | |
| XM_011511732.1:c.4769_4773del | XP_011510034.1:p.Met1590SerfsTer6 | |
| XM_017004819.1:c.4727_4731del | XP_016860308.1:p.Met1576SerfsTer6 | |
| XM_017004820.1:c.4727_4731del | XP_016860309.1:p.Met1576SerfsTer6 | |
| XM_017004821.1:c.4724_4728del | XP_016860310.1:p.Met1575SerfsTer6 | |
| XM_017004822.1:c.4727_4731del | XP_016860311.1:p.Met1576SerfsTer6 | |
| XM_017004823.1:c.4727_4731del | XP_016860312.1:p.Met1576SerfsTer6 | |
| XM_024453094.1:c.4727_4731del | XP_024308862.1:p.Met1576SerfsTer6 | |
| XM_024453095.1:c.4727_4731del | XP_024308863.1:p.Met1576SerfsTer6 | |
| XM_024453096.1:c.4727_4731del | XP_024308864.1:p.Met1576SerfsTer6 | |
| XM_024453097.1:c.4727_4731del | XP_024308865.1:p.Met1576SerfsTer6 | |
| XM_024453098.1:c.4727_4731del | XP_024308866.1:p.Met1576SerfsTer6 | |
| XM_024453099.1:c.4727_4731del | XP_024308867.1:p.Met1576SerfsTer6 | |
| NM_133379.5:c.4724_4728del MANE Plus Clinical | NP_596870.2:p.Met1575SerfsTer6 |