Linked Data
ClinVar Variation Id:
370328
dbSNP Id:
rs1057516403
gnomAD v3:
11-6394494-CTT-C
gnomAD v4:
11-6394494-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394496_6394497del , CM000673.2:g.6394496_6394497del | GRCh38 |
| NC_000011.9:g.6415726_6415727del , CM000673.1:g.6415726_6415727del | GRCh37 |
| NC_000011.8:g.6372302_6372303del | NCBI36 |
| NG_011780.1:g.9072_9073del | |
| NG_029615.1:g.29919_29920del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1785_1786del MANE Select | ENSP00000340409.4:p.Ala597ProfsTer7 | |
| ENST00000342245.8:c.1785_1786del | ENSP00000340409.4:p.Ala597ProfsTer7 | |
| ENST00000526280.1:c.842_843del | ||
| ENST00000527275.5:c.1782_1783del | ENSP00000435350.1:p.Ala596ProfsTer7 | |
| ENST00000531303.5:c.*636_*637del | ENSP00000432625.1:n.*636_*637del | |
| ENST00000533123.5:c.*512_*513del | ENSP00000435950.1:n.*512_*513del | |
| ENST00000534405.5:c.*616_*617del | ENSP00000434353.1:n.*616_*617del | |
| NM_000543.4:c.1785_1786del | NP_000534.3:p.Ala597ProfsTer7 | |
| NM_001007593.2:c.1782_1783del | NP_001007594.2:p.Ala596ProfsTer7 | |
| XM_005253075.3:c.*278_*279del | XP_005253132.1:n.*278_*279del | |
| XM_011520303.1:c.1653_1654del | XP_011518605.1:p.Ala553ProfsTer7 | |
| XM_011520304.1:c.*278_*279del | XP_011518606.1:n.*278_*279del | |
| NM_001318087.1:c.*278_*279del | NP_001305016.1:n.*278_*279del | |
| NM_001318088.1:c.864_865del | NP_001305017.1:p.Ala290ProfsTer7 | |
| NM_001365135.1:c.1653_1654del | NP_001352064.1:p.Ala553ProfsTer7 | |
| NR_027400.2:n.1798_1799del | ||
| NR_134502.1:n.1337_1338del | ||
| XM_011520304.2:c.*278_*279del | XP_011518606.1:n.*278_*279del | |
| XR_001747940.2:n.1970_1971del | ||
| XR_002957158.1:n.2152_2153del | ||
| NM_000543.5:c.1785_1786del MANE Select | NP_000534.3:p.Ala597ProfsTer7 | |
| NM_001007593.3:c.1782_1783del | NP_001007594.2:p.Ala596ProfsTer7 | |
| NM_001318087.2:c.*278_*279del | NP_001305016.1:n.*278_*279del | |
| NM_001318088.2:c.864_865del | NP_001305017.1:p.Ala290ProfsTer7 | |
| NM_001365135.2:c.1653_1654del | NP_001352064.1:p.Ala553ProfsTer7 | |
| NR_027400.3:n.1738_1739del | ||
| NR_134502.2:n.1277_1278del |