Linked Data
gnomAD v4:
1-197039139-TTTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039141_197039143del , CM000663.2:g.197039141_197039143del | GRCh38 |
| NC_000001.10:g.197008271_197008273del , CM000663.1:g.197008271_197008273del | GRCh37 |
| NC_000001.9:g.195274894_195274896del | NCBI36 |
| NG_012065.1:g.33126_33128del , LRG_550:g.33126_33128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*236_*238del MANE Select | ENSP00000356382.2:n.*236_*238del | |
| ENST00000649282.1:c.977_979del | ENSP00000497116.1:n.977_979del | |
| XM_011509283.2:c.*1157_*1159del | XP_011507585.1:n.*1157_*1159del | |
| XM_011509284.2:c.*1157_*1159del | XP_011507586.1:n.*1157_*1159del | |
| XM_011509286.2:c.*1157_*1159del | XP_011507588.1:n.*1157_*1159del | |
| NM_001994.3:c.*236_*238del MANE Select | NP_001985.2:n.*236_*238del |