Linked Data
gnomAD v4:
5-1213335-GCCCCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213336_1213341del , CM000667.2:g.1213336_1213341del | GRCh38 |
| NC_000005.9:g.1213451_1213456del , CM000667.1:g.1213451_1213456del | GRCh37 |
| NC_000005.8:g.1266451_1266456del | NCBI36 |
| NG_008282.1:g.16742_16747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-127_664-122del MANE Select | ENSP00000305302.10:n.664-127_664-122del | |
| ENST00000304460.10:c.664-127_664-122del | ENSP00000305302.10:n.664-127_664-122del | |
| ENST00000515652.5:c.572-127_572-122del | ENSP00000425701.1:n.572-127_572-122del | |
| NM_001003841.2:c.664-127_664-122del | NP_001003841.1:n.664-127_664-122del | |
| NM_001003841.3:c.664-127_664-122del MANE Select | NP_001003841.1:n.664-127_664-122del |