Linked Data
gnomAD v4:
1-155290242-ACCAGCCAAACTGGGATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155290243_155290259del , CM000663.2:g.155290243_155290259del | GRCh38 |
| NC_000001.10:g.155260034_155260050del , CM000663.1:g.155260034_155260050del | GRCh37 |
| NC_000001.9:g.153526658_153526674del | NCBI36 |
| NG_011677.1:g.16176_16192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.*313_*329del MANE Select | ENSP00000339933.4:n.*313_*329del | |
| ENST00000392414.7:c.*313_*329del | ENSP00000376214.3:n.*313_*329del | |
| NM_000298.5:c.*313_*329del | NP_000289.1:n.*313_*329del | |
| NM_181871.3:c.*313_*329del | NP_870986.1:n.*313_*329del | |
| NM_000298.6:c.*313_*329del MANE Select | NP_000289.1:n.*313_*329del | |
| NM_181871.4:c.*313_*329del | NP_870986.1:n.*313_*329del |