Linked Data
gnomAD v4:
5-1213405-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213407_1213408del , CM000667.2:g.1213407_1213408del | GRCh38 |
| NC_000005.9:g.1213522_1213523del , CM000667.1:g.1213522_1213523del | GRCh37 |
| NC_000005.8:g.1266522_1266523del | NCBI36 |
| NG_008282.1:g.16813_16814del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-56_664-55del MANE Select | ENSP00000305302.10:n.664-56_664-55del | |
| ENST00000304460.10:c.664-56_664-55del | ENSP00000305302.10:n.664-56_664-55del | |
| ENST00000515652.5:c.572-56_572-55del | ENSP00000425701.1:n.572-56_572-55del | |
| NM_001003841.2:c.664-56_664-55del | NP_001003841.1:n.664-56_664-55del | |
| NM_001003841.3:c.664-56_664-55del MANE Select | NP_001003841.1:n.664-56_664-55del |