Linked Data
dbSNP Id:
rs990306378
gnomAD v2:
2-204165102-GTGTTCTT-G
gnomAD v3:
2-203300379-GTGTTCTT-G
gnomAD v4:
2-203300379-GTGTTCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203300383_203300389del , CM000664.2:g.203300383_203300389del | GRCh38 |
| NC_000002.11:g.204165106_204165112del , CM000664.1:g.204165106_204165112del | GRCh37 |
| NC_000002.10:g.203873351_203873357del | NCBI36 |
| NG_007956.1:g.66943_66949del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356079.9:c.*3475_*3481del MANE Select | ENSP00000348380.4:n.*3475_*3481del | |
| ENST00000611416.4:c.*3475_*3481del | ENSP00000477866.1:n.*3475_*3481del | |
| ENST00000613925.4:c.*380+3095_*380+3101del | ENSP00000482757.1:n.*380+3095_*380+3101del | |
| NM_177538.2:c.*3475_*3481del | NP_803882.1:n.*3475_*3481del | |
| NM_001371695.1:c.*3475_*3481del | NP_001358624.1:n.*3475_*3481del | |
| NM_001371696.1:c.*3475_*3481del | NP_001358625.1:n.*3475_*3481del | |
| NM_001371697.1:c.*3475_*3481del | NP_001358626.1:n.*3475_*3481del | |
| NM_001371698.1:c.*3475_*3481del | NP_001358627.1:n.*3475_*3481del | |
| NM_001371699.1:c.*3475_*3481del | NP_001358628.1:n.*3475_*3481del | |
| NM_001371700.1:c.*3475_*3481del | NP_001358629.1:n.*3475_*3481del | |
| NM_001371701.1:c.*3475_*3481del | NP_001358630.1:n.*3475_*3481del | |
| NM_001371702.1:c.*3475_*3481del | NP_001358631.1:n.*3475_*3481del | |
| NM_001371703.1:c.*3475_*3481del | NP_001358632.1:n.*3475_*3481del | |
| NM_001371704.1:c.*3475_*3481del | NP_001358633.1:n.*3475_*3481del | |
| NM_001371705.1:c.*3475_*3481del | NP_001358634.1:n.*3475_*3481del | |
| NM_001371706.1:c.*3475_*3481del | NP_001358635.1:n.*3475_*3481del | |
| NM_177538.3:c.*3475_*3481del MANE Select | NP_803882.1:n.*3475_*3481del | |
| NR_163981.1:n.4788_4794del | ||
| NR_163982.1:n.4709_4715del | ||
| NR_163983.1:n.4492_4498del | ||
| NR_163984.1:n.4551_4557del | ||
| NR_163985.1:n.4797_4803del |