Linked Data
ClinVar Variation Id:
2080104
ClinVar RCV Id:
RCV002999036
dbSNP Id:
rs1350690270
gnomAD v2:
11-126145212-CTTA-C
gnomAD v3:
11-126275317-CTTA-C
gnomAD v4:
11-126275317-CTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275319_126275321del , CM000673.2:g.126275319_126275321del | GRCh38 |
| NC_000011.9:g.126145214_126145216del , CM000673.1:g.126145214_126145216del | GRCh37 |
| NC_000011.8:g.125650424_125650426del | NCBI36 |
| NG_028029.1:g.11280_11282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1107_1109del | ||
| ENST00000532101.6:n.734-8_734-6del | ||
| ENST00000532125.2:c.629-8_629-6del | ENSP00000434178.2:n.629-8_629-6del | |
| ENST00000533839.6:c.86-475_86-473del | ENSP00000509952.1:n.86-475_86-473del | |
| ENST00000534011.6:n.924-8_924-6del | ||
| ENST00000685484.1:c.632-8_632-6del | ENSP00000510622.1:n.632-8_632-6del | |
| ENST00000685601.1:c.632-8_632-6del | ENSP00000510603.1:n.632-8_632-6del | |
| ENST00000685765.1:c.632-8_632-6del | ENSP00000509991.1:n.632-8_632-6del | |
| ENST00000685844.1:c.*169-8_*169-6del | ENSP00000509820.1:n.*169-8_*169-6del | |
| ENST00000685857.1:n.1363_1365del | ||
| ENST00000686242.1:c.431-8_431-6del | ENSP00000508950.1:n.431-8_431-6del | |
| ENST00000686888.1:c.*199-8_*199-6del | ENSP00000509619.1:n.*199-8_*199-6del | |
| ENST00000687699.1:c.756-8_756-6del | ENSP00000508878.1:n.756-8_756-6del | |
| ENST00000687786.1:n.2068-8_2068-6del | ||
| ENST00000688100.1:n.1553-8_1553-6del | ||
| ENST00000688588.1:c.632-8_632-6del | ENSP00000510802.1:n.632-8_632-6del | |
| ENST00000688927.1:n.2835_2837del | ||
| ENST00000689283.1:c.*295-8_*295-6del | ENSP00000509050.1:n.*295-8_*295-6del | |
| ENST00000689477.1:c.*525-8_*525-6del | ENSP00000508945.1:n.*525-8_*525-6del | |
| ENST00000689765.1:c.*169-52_*169-50del | ENSP00000509625.1:n.*169-52_*169-50del | |
| ENST00000690512.1:c.*483-8_*483-6del | ENSP00000509793.1:n.*483-8_*483-6del | |
| ENST00000692039.1:c.*430-8_*430-6del | ENSP00000508821.1:n.*430-8_*430-6del | |
| ENST00000692336.1:c.656-8_656-6del | ENSP00000508540.1:n.656-8_656-6del | |
| ENST00000693133.1:n.1104_1106del | ||
| ENST00000263578.10:c.632-8_632-6del MANE Select | ENSP00000263578.5:n.632-8_632-6del | |
| ENST00000263578.9:c.632-8_632-6del | ENSP00000263578.5:n.632-8_632-6del | |
| ENST00000524751.5:n.865_867del | ||
| ENST00000525083.5:n.352-8_352-6del | ||
| ENST00000525770.5:c.*264-8_*264-6del | ENSP00000434739.1:n.*264-8_*264-6del | |
| ENST00000527004.5:c.534-8_534-6del | ENSP00000436374.1:n.534-8_534-6del | |
| ENST00000530642.1:n.1406_1408del | ||
| ENST00000532101.5:n.855-8_855-6del | ||
| ENST00000532125.1:c.590-8_590-6del | ENSP00000434178.1:n.590-8_590-6del | |
| ENST00000533395.5:n.365-8_365-6del | ||
| ENST00000533839.5:n.238-475_238-473del | ||
| ENST00000534011.5:n.684-8_684-6del | ||
| ENST00000534315.5:n.944-8_944-6del | ||
| NM_017547.3:c.632-8_632-6del | NP_060017.1:n.632-8_632-6del | |
| NR_037647.1:n.578-8_578-6del | ||
| NR_037648.1:n.818-8_818-6del | ||
| XM_006718879.2:c.122-8_122-6del | XP_006718942.1:n.122-8_122-6del | |
| XM_006718880.2:c.-2-8_-2-6del | XP_006718943.1:n.-2-8_-2-6del | |
| XM_006718881.2:c.-2-8_-2-6del | XP_006718944.1:n.-2-8_-2-6del | |
| XM_011542895.1:c.122-8_122-6del | XP_011541197.1:n.122-8_122-6del | |
| XM_011542896.1:c.122-8_122-6del | XP_011541198.1:n.122-8_122-6del | |
| XM_006718879.3:c.122-8_122-6del | XP_006718942.1:n.122-8_122-6del | |
| XM_006718881.3:c.-2-8_-2-6del | XP_006718944.1:n.-2-8_-2-6del | |
| XM_011542895.2:c.122-8_122-6del | XP_011541197.1:n.122-8_122-6del | |
| XM_011542896.2:c.122-8_122-6del | XP_011541198.1:n.122-8_122-6del | |
| XM_017018000.2:c.632-8_632-6del | XP_016873489.1:n.632-8_632-6del | |
| XM_017018001.1:c.122-8_122-6del | XP_016873490.1:n.122-8_122-6del | |
| XM_017018002.1:c.122-8_122-6del | XP_016873491.1:n.122-8_122-6del | |
| XM_017018003.2:c.-2-8_-2-6del | XP_016873492.1:n.-2-8_-2-6del | |
| XM_017018004.1:c.-2-8_-2-6del | XP_016873493.1:n.-2-8_-2-6del | |
| XM_017018005.1:c.-2-8_-2-6del | XP_016873494.1:n.-2-8_-2-6del | |
| XM_017018006.2:c.-2-8_-2-6del | XP_016873495.1:n.-2-8_-2-6del | |
| NM_017547.4:c.632-8_632-6del MANE Select | NP_060017.1:n.632-8_632-6del | |
| NR_037647.2:n.464-8_464-6del | ||
| NR_037648.2:n.809-8_809-6del |