Linked Data
ClinVar Variation Id:
558186
ClinVar RCV Id:
RCV000674414
dbSNP Id:
rs1178393503
gnomAD v2:
2-219678903-ACT-A
gnomAD v3:
2-218814180-ACT-A
gnomAD v4:
2-218814180-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814183_218814184del , CM000664.2:g.218814183_218814184del | GRCh38 |
| NC_000002.11:g.219678906_219678907del , CM000664.1:g.219678906_219678907del | GRCh37 |
| NC_000002.10:g.219387150_219387151del | NCBI36 |
| NG_007959.1:g.37435_37436del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1180_1181del MANE Select | ENSP00000258415.4:p.Leu394AlafsTer18 | |
| ENST00000258415.8:c.1180_1181del | ENSP00000258415.4:p.Leu394AlafsTer18 | |
| ENST00000494263.5:n.1614_1615del | ||
| NM_000784.3:c.1180_1181del | NP_000775.1:p.Leu394AlafsTer18 | |
| XM_017003488.2:c.760_761del | XP_016858977.1:p.Leu254AlafsTer18 | |
| NM_000784.4:c.1180_1181del MANE Select | NP_000775.1:p.Leu394AlafsTer18 |