Linked Data
gnomAD v4:
13-20188816-TAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20188817_20188819del , CM000675.2:g.20188817_20188819del | GRCh38 |
| NC_000013.10:g.20762956_20762958del , CM000675.1:g.20762956_20762958del | GRCh37 |
| NC_000013.9:g.19660956_19660958del | NCBI36 |
| NG_008358.1:g.9157_9159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.*82_*84del | ENSP00000372295.1:n.*82_*84del | |
| ENST00000382848.5:c.*82_*84del MANE Select | ENSP00000372299.4:n.*82_*84del | |
| ENST00000382844.1:c.*82_*84del | ENSP00000372295.1:n.*82_*84del | |
| ENST00000382848.4:c.*82_*84del | ENSP00000372299.4:n.*82_*84del | |
| NM_004004.5:c.*82_*84del | NP_003995.2:n.*82_*84del | |
| XM_011535049.1:c.*82_*84del | XP_011533351.1:n.*82_*84del | |
| XM_011535049.2:c.*82_*84del | XP_011533351.1:n.*82_*84del | |
| NM_004004.6:c.*82_*84del MANE Select | NP_003995.2:n.*82_*84del |