Linked Data
gnomAD v4:
4-55125569-CGCTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125570_55125574del , CM000666.2:g.55125570_55125574del | GRCh38 |
| NC_000004.11:g.55991737_55991741del , CM000666.1:g.55991737_55991741del | GRCh37 |
| NC_000004.10:g.55686494_55686498del | NCBI36 |
| NG_012004.1:g.5022_5026del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-281_-277del MANE Select | ENSP00000263923.4:n.-281_-277del | |
| ENST00000263923.4:c.-281_-277del | ENSP00000263923.4:n.-281_-277del | |
| NM_002253.2:c.-281_-277del | NP_002244.1:n.-281_-277del | |
| NM_002253.3:c.-281_-277del | NP_002244.1:n.-281_-277del | |
| NM_002253.4:c.-281_-277del MANE Select | NP_002244.1:n.-281_-277del |