Linked Data
dbSNP Id:
rs1384897242
gnomAD v2:
14-33303017-AT-A
gnomAD v3:
14-32833811-AT-A
gnomAD v4:
14-32833811-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32833818del , CM000676.2:g.32833818del | GRCh38 |
| NC_000014.8:g.33303024del , CM000676.1:g.33303024del | GRCh37 |
| NC_000014.7:g.32372775del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280979.9:c.*4013del MANE Select | ENSP00000280979.4:n.*4013del | |
| ENST00000280979.8:c.*4013del | ENSP00000280979.4:n.*4013del | |
| XM_005268219.3:c.*4013del | XP_005268276.1:n.*4013del | |
| XM_011537378.1:c.*4013del | XP_011535680.1:n.*4013del | |
| XM_011537379.1:c.*4013del | XP_011535681.1:n.*4013del | |
| XM_011537380.1:c.*4013del | XP_011535682.1:n.*4013del | |
| XM_011537381.1:c.*4013del | XP_011535683.1:n.*4013del | |
| XM_011537382.1:c.*4013del | XP_011535684.1:n.*4013del | |
| XM_011537383.1:c.*4013del | XP_011535685.1:n.*4013del | |
| XM_017021808.2:c.*4013del | XP_016877297.1:n.*4013del | |
| NM_004274.5:c.*4013del MANE Select | NP_004265.3:n.*4013del |