Linked Data
ClinVar Variation Id:
140579
ClinVar RCV Id:
RCV000128796
dbSNP Id:
rs587777549
PubMed:
PMID:24292712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47021950del , CM000664.2:g.47021950del | GRCh38 |
| NC_000002.11:g.47249089del , CM000664.1:g.47249089del | GRCh37 |
| NC_000002.10:g.47102593del | NCBI36 |
| NG_034143.1:g.110822del | |
| NG_034143.2:g.110822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3314del | ||
| ENST00000319190.11:c.1481del MANE Select | ENSP00000316699.5:p.Gly494ValfsTer13 | |
| ENST00000651101.1:n.429del | ||
| ENST00000651415.1:n.272del | ||
| ENST00000652236.1:n.240del | ||
| ENST00000652568.1:n.184-1458del | ||
| ENST00000319190.9:c.1481del | ENSP00000316699.5:p.Gly494ValfsTer13 | |
| ENST00000394850.6:c.1481del | ENSP00000378320.2:p.Gly494ValfsTer13 | |
| ENST00000409245.5:c.1379del | ENSP00000386307.1:p.Gly460ValfsTer13 | |
| ENST00000409825.5:c.1429del | ||
| ENST00000440051.1:c.318-1458del | ||
| ENST00000441914.5:c.1322del | ||
| ENST00000461601.5:n.1806del | ||
| ENST00000484061.5:n.676-2337del | ||
| ENST00000491786.5:n.885del | ||
| NM_001288951.1:c.1481del | NP_001275880.1:p.Gly494ValfsTer13 | |
| NM_001288953.1:c.1379del | NP_001275882.1:p.Gly460ValfsTer13 | |
| NM_001288955.1:c.419del | NP_001275884.1:p.Gly140ValfsTer13 | |
| NM_020458.3:c.1481del | NP_065191.2:p.Gly494ValfsTer13 | |
| XM_005264439.2:c.1124del | XP_005264496.1:p.Gly375ValfsTer13 | |
| XM_011532998.1:c.1124del | XP_011531300.1:p.Gly375ValfsTer13 | |
| XM_011532999.1:c.1481del | XP_011531301.1:p.Gly494ValfsTer13 | |
| XM_011533000.1:c.701del | XP_011531302.1:p.Gly234ValfsTer13 | |
| XM_011533001.1:c.434del | XP_011531303.1:p.Gly145ValfsTer13 | |
| XR_939696.1:n.1786del | ||
| XM_005264439.4:c.1124del | XP_005264496.1:p.Gly375ValfsTer13 | |
| XM_011532998.3:c.1124del | XP_011531300.1:p.Gly375ValfsTer13 | |
| XM_011532999.2:c.1481del | XP_011531301.1:p.Gly494ValfsTer13 | |
| XM_011533000.3:c.701del | XP_011531302.1:p.Gly234ValfsTer13 | |
| XM_011533001.3:c.434del | XP_011531303.1:p.Gly145ValfsTer13 | |
| XM_017004524.1:c.1481del | XP_016860013.1:p.Gly494ValfsTer13 | |
| XM_017004525.1:c.1313del | XP_016860014.1:p.Gly438ValfsTer13 | |
| XM_017004526.1:c.1393-7274del | XP_016860015.1:n.1393-7274del | |
| XM_017004529.1:c.1481del | XP_016860018.1:p.Gly494ValfsTer13 | |
| XM_024453013.1:c.446del | XP_024308781.1:p.Gly149ValfsTer13 | |
| XR_001738853.2:n.1793del | ||
| XR_001738854.1:n.1704-1458del | ||
| NM_020458.4:c.1481del MANE Select | NP_065191.2:p.Gly494ValfsTer13 | |
| NM_001288951.2:c.1481del | NP_001275880.1:p.Gly494ValfsTer13 | |
| NM_001288953.2:c.1379del | NP_001275882.1:p.Gly460ValfsTer13 | |
| NM_001288955.2:c.419del | NP_001275884.1:p.Gly140ValfsTer13 |