Linked Data
dbSNP Id:
rs372531070
gnomAD v2:
2-204165052-CTAAGT-C
gnomAD v3:
2-203300329-CTAAGT-C
gnomAD v4:
2-203300329-CTAAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203300332_203300336del , CM000664.2:g.203300332_203300336del | GRCh38 |
| NC_000002.11:g.204165055_204165059del , CM000664.1:g.204165055_204165059del | GRCh37 |
| NC_000002.10:g.203873300_203873304del | NCBI36 |
| NG_007956.1:g.66892_66896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356079.9:c.*3424_*3428del MANE Select | ENSP00000348380.4:n.*3424_*3428del | |
| ENST00000611416.4:c.*3424_*3428del | ENSP00000477866.1:n.*3424_*3428del | |
| ENST00000613925.4:c.*380+3044_*380+3048del | ENSP00000482757.1:n.*380+3044_*380+3048del | |
| NM_177538.2:c.*3424_*3428del | NP_803882.1:n.*3424_*3428del | |
| NM_001371695.1:c.*3424_*3428del | NP_001358624.1:n.*3424_*3428del | |
| NM_001371696.1:c.*3424_*3428del | NP_001358625.1:n.*3424_*3428del | |
| NM_001371697.1:c.*3424_*3428del | NP_001358626.1:n.*3424_*3428del | |
| NM_001371698.1:c.*3424_*3428del | NP_001358627.1:n.*3424_*3428del | |
| NM_001371699.1:c.*3424_*3428del | NP_001358628.1:n.*3424_*3428del | |
| NM_001371700.1:c.*3424_*3428del | NP_001358629.1:n.*3424_*3428del | |
| NM_001371701.1:c.*3424_*3428del | NP_001358630.1:n.*3424_*3428del | |
| NM_001371702.1:c.*3424_*3428del | NP_001358631.1:n.*3424_*3428del | |
| NM_001371703.1:c.*3424_*3428del | NP_001358632.1:n.*3424_*3428del | |
| NM_001371704.1:c.*3424_*3428del | NP_001358633.1:n.*3424_*3428del | |
| NM_001371705.1:c.*3424_*3428del | NP_001358634.1:n.*3424_*3428del | |
| NM_001371706.1:c.*3424_*3428del | NP_001358635.1:n.*3424_*3428del | |
| NM_177538.3:c.*3424_*3428del MANE Select | NP_803882.1:n.*3424_*3428del | |
| NR_163981.1:n.4737_4741del | ||
| NR_163982.1:n.4658_4662del | ||
| NR_163983.1:n.4441_4445del | ||
| NR_163984.1:n.4500_4504del | ||
| NR_163985.1:n.4746_4750del |