Linked Data
dbSNP Id:
rs1175434212
gnomAD v2:
1-197059717-AC-A
gnomAD v3:
1-197090587-AC-A
gnomAD v4:
1-197090587-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090588del , CM000663.2:g.197090588del | GRCh38 |
| NC_000001.10:g.197059718del , CM000663.1:g.197059718del | GRCh37 |
| NC_000001.9:g.195326341del | NCBI36 |
| NG_015867.1:g.61107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2924-200del | ||
| ENST00000367409.9:c.9637-200del MANE Select | ENSP00000356379.4:n.9637-200del | |
| ENST00000680265.1:c.9859-200del | ENSP00000505384.1:n.9859-200del | |
| ENST00000680710.1:c.9613-200del | ENSP00000506676.1:n.9613-200del | |
| ENST00000294732.11:c.4882-200del | ENSP00000294732.7:n.4882-200del | |
| ENST00000367408.5:c.2632-200del | ENSP00000356378.1:n.2632-200del | |
| ENST00000367409.8:c.9637-200del | ENSP00000356379.4:n.9637-200del | |
| ENST00000612785.1:c.3595-200del | ENSP00000479244.1:n.3595-200del | |
| NM_001206846.1:c.4882-200del | NP_001193775.1:n.4882-200del | |
| NM_018136.4:c.9637-200del | NP_060606.3:n.9637-200del | |
| NM_018136.5:c.9637-200del MANE Select | NP_060606.3:n.9637-200del | |
| NM_001206846.2:c.4882-200del | NP_001193775.1:n.4882-200del |