Linked Data
ClinVar Variation Id:
88913
dbSNP Id:
rs587779352
gnomAD v2:
5-112174470-TAAAAC-T
gnomAD v4:
5-112838773-TAAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838777_112838781del , CM000667.2:g.112838777_112838781del | GRCh38 |
| NC_000005.9:g.112174474_112174478del , CM000667.1:g.112174474_112174478del | GRCh37 |
| NC_000005.8:g.112202373_112202377del | NCBI36 |
| NG_008481.4:g.151257_151261del , LRG_130:g.151257_151261del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.2848_2852del | ENSP00000484935.2:n.2848_2852del | |
| ENST00000504915.3:c.3237_3241del | ENSP00000473355.2:p.Gln1080Ter | |
| ENST00000505350.2:c.*3189_*3193del | ENSP00000481752.1:n.*3189_*3193del | |
| ENST00000507379.6:c.3129_3133del | ENSP00000423224.2:p.Gln1044Ter | |
| ENST00000509732.6:c.3183_3187del | ENSP00000426541.2:p.Gln1062Ter | |
| ENST00000512211.7:c.3183_3187del | ENSP00000423828.3:p.Gln1062Ter | |
| ENST00000257430.9:c.3183_3187del MANE Select | ENSP00000257430.4:p.Gln1062Ter | |
| ENST00000257430.8:c.3183_3187del | ENSP00000257430.4:p.Gln1062Ter | |
| ENST00000502371.2:c.1536_1540del | ||
| ENST00000507379.5:c.3129_3133del | ENSP00000423224.1:p.Gln1044Ter | |
| ENST00000508376.6:c.3183_3187del | ENSP00000427089.2:p.Gln1062Ter | |
| ENST00000508624.5:c.*2505_*2509del | ENSP00000424265.1:n.*2505_*2509del | |
| ENST00000512211.6:c.3183_3187del | ENSP00000423828.2:p.Gln1062Ter | |
| ENST00000520401.1:c.230+9805_230+9809del | ||
| NM_000038.5:c.3183_3187del | NP_000029.2:p.Gln1062Ter | |
| NM_001127510.2:c.3183_3187del | NP_001120982.1:p.Gln1062Ter | |
| NM_001127511.2:c.3129_3133del | NP_001120983.2:p.Gln1044Ter | |
| NM_001354895.1:c.3183_3187del | NP_001341824.1:p.Gln1062Ter | |
| NM_001354896.1:c.3237_3241del | NP_001341825.1:p.Gln1080Ter | |
| NM_001354897.1:c.3213_3217del | NP_001341826.1:p.Gln1072Ter | |
| NM_001354898.1:c.3108_3112del | NP_001341827.1:p.Gln1037Ter | |
| NM_001354899.1:c.3099_3103del | NP_001341828.1:p.Gln1034Ter | |
| NM_001354900.1:c.3060_3064del | NP_001341829.1:p.Gln1021Ter | |
| NM_001354901.1:c.3006_3010del | NP_001341830.1:p.Gln1003Ter | |
| NM_001354902.1:c.2910_2914del | NP_001341831.1:p.Gln971Ter | |
| NM_001354903.1:c.2880_2884del | NP_001341832.1:p.Gln961Ter | |
| NM_001354904.1:c.2805_2809del | NP_001341833.1:p.Gln936Ter | |
| NM_001354905.1:c.2703_2707del | NP_001341834.1:p.Gln902Ter | |
| NM_001354906.1:c.2334_2338del | NP_001341835.1:p.Gln779Ter | |
| NM_000038.6:c.3183_3187del MANE Select | NP_000029.2:p.Gln1062Ter | |
| NM_001127510.3:c.3183_3187del | NP_001120982.1:p.Gln1062Ter | |
| NM_001127511.3:c.3129_3133del | NP_001120983.2:p.Gln1044Ter | |
| NM_001354895.2:c.3183_3187del | NP_001341824.1:p.Gln1062Ter | |
| NM_001354896.2:c.3237_3241del | NP_001341825.1:p.Gln1080Ter | |
| NM_001354897.2:c.3213_3217del | NP_001341826.1:p.Gln1072Ter | |
| NM_001354898.2:c.3108_3112del | NP_001341827.1:p.Gln1037Ter | |
| NM_001354899.2:c.3099_3103del | NP_001341828.1:p.Gln1034Ter | |
| NM_001354900.2:c.3060_3064del | NP_001341829.1:p.Gln1021Ter | |
| NM_001354901.2:c.3006_3010del | NP_001341830.1:p.Gln1003Ter | |
| NM_001354902.2:c.2910_2914del | NP_001341831.1:p.Gln971Ter | |
| NM_001354903.2:c.2880_2884del | NP_001341832.1:p.Gln961Ter | |
| NM_001354904.2:c.2805_2809del | NP_001341833.1:p.Gln936Ter | |
| NM_001354905.2:c.2703_2707del | NP_001341834.1:p.Gln902Ter | |
| NM_001354906.2:c.2334_2338del | NP_001341835.1:p.Gln779Ter |