Linked Data
dbSNP Id:
rs543944417
gnomAD v2:
2-46577806-AC-A
gnomAD v3:
2-46350667-AC-A
gnomAD v4:
2-46350667-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350668del , CM000664.2:g.46350668del | GRCh38 |
| NC_000002.11:g.46577807del , CM000664.1:g.46577807del | GRCh37 |
| NC_000002.10:g.46431311del | NCBI36 |
| NG_016000.1:g.58267del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.217+3605del MANE Select | ENSP00000263734.3:n.217+3605del | |
| ENST00000263734.4:c.217+3605del | ENSP00000263734.3:n.217+3605del | |
| ENST00000449347.5:c.217+3605del | ENSP00000406137.1:n.217+3605del | |
| ENST00000475822.1:n.408+3605del | ||
| NM_001430.4:c.217+3605del | NP_001421.2:n.217+3605del | |
| XM_011532698.1:c.256+3605del | XP_011531000.1:n.256+3605del | |
| XM_011532698.2:c.256+3605del | XP_011531000.1:n.256+3605del | |
| NM_001430.5:c.217+3605del MANE Select | NP_001421.2:n.217+3605del |