Linked Data
gnomAD v4:
5-1213344-AGGCCTGGCCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213345_1213354del , CM000667.2:g.1213345_1213354del | GRCh38 |
| NC_000005.9:g.1213460_1213469del , CM000667.1:g.1213460_1213469del | GRCh37 |
| NC_000005.8:g.1266460_1266469del | NCBI36 |
| NG_008282.1:g.16751_16760del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-118_664-109del MANE Select | ENSP00000305302.10:n.664-118_664-109del | |
| ENST00000304460.10:c.664-118_664-109del | ENSP00000305302.10:n.664-118_664-109del | |
| ENST00000515652.5:c.572-118_572-109del | ENSP00000425701.1:n.572-118_572-109del | |
| NM_001003841.2:c.664-118_664-109del | NP_001003841.1:n.664-118_664-109del | |
| NM_001003841.3:c.664-118_664-109del MANE Select | NP_001003841.1:n.664-118_664-109del |