Linked Data
dbSNP Id:
rs377306964
gnomAD v2:
1-65298562-TACAA-T
gnomAD v3:
1-64832879-TACAA-T
gnomAD v4:
1-64832879-TACAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64832895_64832898del , CM000663.2:g.64832895_64832898del | GRCh38 |
| NC_000001.10:g.65298578_65298581del , CM000663.1:g.65298578_65298581del | GRCh37 |
| NC_000001.9:g.65071166_65071169del | NCBI36 |
| NG_023402.1:g.138622_138625del | |
| NG_023402.2:g.239864_239867del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294428.8:c.*1910_*1913del MANE Select | ENSP00000294428.3:n.*1910_*1913del | |
| ENST00000294428.7:c.*1910_*1913del | ENSP00000294428.3:n.*1910_*1913del | |
| ENST00000371072.8:c.*1910_*1913del | ENSP00000360112.4:n.*1910_*1913del | |
| NM_018211.3:c.*1910_*1913del | NP_060681.2:n.*1910_*1913del | |
| XM_006710738.2:c.*1910_*1913del | XP_006710801.2:n.*1910_*1913del | |
| NM_001366165.1:c.*1910_*1913del | NP_001353094.1:n.*1910_*1913del | |
| XR_946693.3:n.4329_4332del | ||
| NM_018211.4:c.*1910_*1913del | NP_060681.2:n.*1910_*1913del | |
| NM_001366165.2:c.*1910_*1913del MANE Select | NP_001353094.1:n.*1910_*1913del |