Linked Data
gnomAD v4:
5-1213336-CCCCCCGTAGGCCTGGCCCCCATTCCCCACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213337_1213366del , CM000667.2:g.1213337_1213366del | GRCh38 |
| NC_000005.9:g.1213452_1213481del , CM000667.1:g.1213452_1213481del | GRCh37 |
| NC_000005.8:g.1266452_1266481del | NCBI36 |
| NG_008282.1:g.16743_16772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-126_664-97del MANE Select | ENSP00000305302.10:n.664-126_664-97del | |
| ENST00000304460.10:c.664-126_664-97del | ENSP00000305302.10:n.664-126_664-97del | |
| ENST00000515652.5:c.572-126_572-97del | ENSP00000425701.1:n.572-126_572-97del | |
| NM_001003841.2:c.664-126_664-97del | NP_001003841.1:n.664-126_664-97del | |
| NM_001003841.3:c.664-126_664-97del MANE Select | NP_001003841.1:n.664-126_664-97del |