Linked Data
gnomAD v4:
1-197039147-AGATGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039148_197039152del , CM000663.2:g.197039148_197039152del | GRCh38 |
| NC_000001.10:g.197008278_197008282del , CM000663.1:g.197008278_197008282del | GRCh37 |
| NC_000001.9:g.195274901_195274905del | NCBI36 |
| NG_012065.1:g.33116_33120del , LRG_550:g.33116_33120del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*226_*230del MANE Select | ENSP00000356382.2:n.*226_*230del | |
| ENST00000649282.1:c.967_971del | ENSP00000497116.1:n.967_971del | |
| XM_011509283.2:c.*1147_*1151del | XP_011507585.1:n.*1147_*1151del | |
| XM_011509284.2:c.*1147_*1151del | XP_011507586.1:n.*1147_*1151del | |
| XM_011509286.2:c.*1147_*1151del | XP_011507588.1:n.*1147_*1151del | |
| NM_001994.3:c.*226_*230del MANE Select | NP_001985.2:n.*226_*230del |