Linked Data
ClinVar Variation Id:
633257
ClinVar RCV Id:
RCV000781445
dbSNP Id:
rs935464108
gnomAD v4:
7-65960977-ATC-A
COSMIC:
COSM5944024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960984_65960985del , CM000669.2:g.65960984_65960985del | GRCh38 |
| NC_000007.13:g.65425971_65425972del , CM000669.1:g.65425971_65425972del | GRCh37 |
| NC_000007.12:g.65063406_65063407del | NCBI36 |
| NG_016197.1:g.26336_26337del | |
| NG_051954.1:g.92886_92887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1874_1875del MANE Select | ENSP00000302728.4:p.Arg625IlefsTer7 | |
| ENST00000304895.8:c.1874_1875del | ENSP00000302728.4:p.Arg625IlefsTer7 | |
| ENST00000421103.5:c.1436_1437del | ENSP00000391390.1:p.Arg479IlefsTer7 | |
| ENST00000430730.5:c.*1141_*1142del | ENSP00000411859.1:n.*1141_*1142del | |
| ENST00000447929.5:c.*1254_*1255del | ENSP00000411262.1:n.*1254_*1255del | |
| ENST00000466883.5:n.2264_2265del | ||
| NM_000181.3:c.1874_1875del | NP_000172.2:p.Arg625IlefsTer7 | |
| NM_001284290.1:c.1436_1437del | NP_001271219.1:p.Arg479IlefsTer7 | |
| NM_001293104.1:c.1304_1305del | NP_001280033.1:p.Arg435IlefsTer7 | |
| NM_001293105.1:c.1217_1218del | NP_001280034.1:p.Arg406IlefsTer7 | |
| NR_120531.1:n.1920_1921del | ||
| XM_005250297.3:c.1721_1722del | XP_005250354.1:p.Arg574IlefsTer7 | |
| XM_011516113.1:c.1373_1374del | XP_011514415.1:p.Arg458IlefsTer7 | |
| XM_011516114.1:c.1202_1203del | XP_011514416.1:p.Arg401IlefsTer7 | |
| XM_005250297.4:c.1721_1722del | XP_005250354.1:p.Arg574IlefsTer7 | |
| XM_011516114.2:c.1202_1203del | XP_011514416.1:p.Arg401IlefsTer7 | |
| XM_017012091.1:c.1220_1221del | XP_016867580.1:p.Arg407IlefsTer7 | |
| XM_017012092.1:c.1151_1152del | XP_016867581.1:p.Arg384IlefsTer7 | |
| XM_017012093.2:c.1049_1050del | XP_016867582.1:p.Arg350IlefsTer7 | |
| XR_001744658.2:n.1681_1682del | ||
| XR_001744659.2:n.1794_1795del | ||
| XR_001744660.2:n.1726_1727del | ||
| XR_001744661.2:n.1641_1642del | ||
| XR_927461.3:n.1879_1880del | ||
| NM_000181.4:c.1874_1875del MANE Select | NP_000172.2:p.Arg625IlefsTer7 | |
| NM_001284290.2:c.1436_1437del | NP_001271219.1:p.Arg479IlefsTer7 | |
| NM_001293104.2:c.1304_1305del | NP_001280033.1:p.Arg435IlefsTer7 | |
| NM_001293105.2:c.1217_1218del | NP_001280034.1:p.Arg406IlefsTer7 | |
| NR_120531.2:n.1819_1820del |