Linked Data
ClinVar Variation Id:
417619
ClinVar RCV Id:
RCV000578477
dbSNP Id:
rs1555789557
PubMed:
PMID:28821231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3916940_3916943del , CM000682.2:g.3916940_3916943del | GRCh38 |
| NC_000020.10:g.3897587_3897590del , CM000682.1:g.3897587_3897590del | GRCh37 |
| NC_000020.9:g.3845587_3845590del | NCBI36 |
| NG_008131.3:g.33102_33105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1096_1099del MANE Select | ENSP00000477429.2:p.Met366AlafsTer18 | |
| ENST00000316562.9:c.1426_1429del | ENSP00000313377.4:p.Met476AlafsTer18 | |
| ENST00000336066.8:c.*437_*440del | ENSP00000477229.2:n.*437_*440del | |
| ENST00000610179.6:c.1096_1099del | ENSP00000477429.2:p.Met366AlafsTer18 | |
| ENST00000643504.2:c.*726_*729del | ENSP00000495157.2:n.*726_*729del | |
| ENST00000646394.1:c.923_926del | ||
| ENST00000316562.8:c.1426_1429del | ENSP00000313377.4:p.Met476AlafsTer18 | |
| ENST00000336066.7:c.*437_*440del | ENSP00000477229.1:n.*437_*440del | |
| ENST00000464452.1:n.661_664del | ||
| ENST00000495692.5:c.118_121del | ENSP00000476745.1:p.Met40AlafsTer18 | |
| ENST00000497424.5:c.553_556del | ENSP00000417609.1:p.Met185AlafsTer18 | |
| ENST00000610179.5:c.1057_1060del | ENSP00000477429.1:p.Met353AlafsTer18 | |
| ENST00000621507.1:c.553_556del | ENSP00000481523.1:p.Met185AlafsTer18 | |
| NM_024960.4:c.553_556del | NP_079236.3:p.Met185AlafsTer18 | |
| NM_153638.2:c.1426_1429del | NP_705902.2:p.Met476AlafsTer18 | |
| NM_153640.2:c.553_556del | NP_705904.1:p.Met185AlafsTer18 | |
| XM_005260835.2:c.811_814del | XP_005260892.1:p.Met271AlafsTer18 | |
| XM_005260836.3:c.553_556del | XP_005260893.3:p.Met185AlafsTer18 | |
| XM_006723631.1:c.553_556del | XP_006723694.1:p.Met185AlafsTer18 | |
| XM_011529364.1:c.1249_1252del | XP_011527666.1:p.Met417AlafsTer18 | |
| NM_001324191.1:c.553_556del | NP_001311120.1:p.Met185AlafsTer18 | |
| NM_001324193.1:c.118_121del | NP_001311122.1:p.Met40AlafsTer18 | |
| NM_024960.5:c.553_556del | NP_079236.3:p.Met185AlafsTer18 | |
| NM_153638.3:c.1426_1429del | NP_705902.2:p.Met476AlafsTer18 | |
| NM_153640.3:c.553_556del | NP_705904.1:p.Met185AlafsTer18 | |
| NR_136715.1:n.1450_1453del | ||
| XM_005260835.3:c.811_814del | XP_005260892.1:p.Met271AlafsTer18 | |
| XM_005260836.4:c.553_556del | XP_005260893.3:p.Met185AlafsTer18 | |
| XM_011529364.3:c.1249_1252del | XP_011527666.1:p.Met417AlafsTer18 | |
| XM_017028077.2:c.118_121del | XP_016883566.1:p.Met40AlafsTer18 | |
| XM_017028078.2:c.118_121del | XP_016883567.1:p.Met40AlafsTer18 | |
| XM_017028079.2:c.118_121del | XP_016883568.1:p.Met40AlafsTer18 | |
| XM_024452002.1:c.118_121del | XP_024307770.1:p.Met40AlafsTer18 | |
| XR_002958533.1:n.2214_2217del | ||
| NM_001324191.2:c.553_556del | NP_001311120.1:p.Met185AlafsTer18 | |
| NM_001324193.2:c.118_121del | NP_001311122.1:p.Met40AlafsTer18 | |
| NM_024960.6:c.553_556del | NP_079236.3:p.Met185AlafsTer18 | |
| NR_136715.2:n.997_1000del | ||
| NM_001386393.1:c.1096_1099del MANE Select | NP_001373322.1:p.Met366AlafsTer18 | |
| NM_153638.4:c.1426_1429del | NP_705902.2:p.Met476AlafsTer18 | |
| NM_153640.4:c.553_556del | NP_705904.1:p.Met185AlafsTer18 |