Linked Data
gnomAD v4:
5-1213367-TGCCCCGCCCCCATATGCCCCGCCCCCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213369_1213396del , CM000667.2:g.1213369_1213396del | GRCh38 |
| NC_000005.9:g.1213484_1213511del , CM000667.1:g.1213484_1213511del | GRCh37 |
| NC_000005.8:g.1266484_1266511del | NCBI36 |
| NG_008282.1:g.16775_16802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-94_664-67del MANE Select | ENSP00000305302.10:n.664-94_664-67del | |
| ENST00000304460.10:c.664-94_664-67del | ENSP00000305302.10:n.664-94_664-67del | |
| ENST00000515652.5:c.572-94_572-67del | ENSP00000425701.1:n.572-94_572-67del | |
| NM_001003841.2:c.664-94_664-67del | NP_001003841.1:n.664-94_664-67del | |
| NM_001003841.3:c.664-94_664-67del MANE Select | NP_001003841.1:n.664-94_664-67del |