Linked Data
gnomAD v4:
12-5044133-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044134del , CM000674.2:g.5044134del | GRCh38 |
| NC_000012.11:g.5153300del , CM000674.1:g.5153300del | GRCh37 |
| NC_000012.10:g.5023561del | NCBI36 |
| NG_012198.1:g.5216del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.-14del MANE Select | ENSP00000252321.3:n.-14del | |
| ENST00000252321.4:c.-14del | ENSP00000252321.3:n.-14del | |
| NM_002234.3:c.-14del | NP_002225.2:n.-14del | |
| NM_002234.4:c.-14del MANE Select | NP_002225.2:n.-14del |