Linked Data
dbSNP Id:
rs1485478270
gnomAD v2:
1-197008326-CT-C
gnomAD v3:
1-197039196-CT-C
gnomAD v4:
1-197039196-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039197del , CM000663.2:g.197039197del | GRCh38 |
| NC_000001.10:g.197008327del , CM000663.1:g.197008327del | GRCh37 |
| NC_000001.9:g.195274950del | NCBI36 |
| NG_012065.1:g.33071del , LRG_550:g.33071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*181del MANE Select | ENSP00000356382.2:n.*181del | |
| ENST00000649282.1:c.922del | ENSP00000497116.1:n.922del | |
| ENST00000367412.1:c.*181del | ENSP00000356382.1:n.*181del | |
| NM_001994.2:c.*181del , LRG_550t1:c.*181del | NP_001985.2:n.*181del | |
| XM_011509283.2:c.*1102del | XP_011507585.1:n.*1102del | |
| XM_011509284.2:c.*1102del | XP_011507586.1:n.*1102del | |
| XM_011509286.2:c.*1102del | XP_011507588.1:n.*1102del | |
| NM_001994.3:c.*181del MANE Select | NP_001985.2:n.*181del |