Linked Data
gnomAD v4:
4-119320904-CAAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320906_119320910del , CM000666.2:g.119320906_119320910del | GRCh38 |
| NC_000004.11:g.120242061_120242065del , CM000666.1:g.120242061_120242065del | GRCh37 |
| NC_000004.10:g.120461509_120461513del | NCBI36 |
| NG_011444.1:g.6253_6257del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.68-67_68-63del MANE Select | ENSP00000274024.3:n.68-67_68-63del | |
| ENST00000274024.3:c.68-67_68-63del | ENSP00000274024.3:n.68-67_68-63del | |
| NM_000134.3:c.68-67_68-63del | NP_000125.2:n.68-67_68-63del | |
| NM_000134.4:c.68-67_68-63del MANE Select | NP_000125.2:n.68-67_68-63del |