Linked Data
gnomAD v4:
4-55125496-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125498del , CM000666.2:g.55125498del | GRCh38 |
| NC_000004.11:g.55991665del , CM000666.1:g.55991665del | GRCh37 |
| NC_000004.10:g.55686422del | NCBI36 |
| NG_012004.1:g.5099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-204del MANE Select | ENSP00000263923.4:n.-204del | |
| ENST00000263923.4:c.-204del | ENSP00000263923.4:n.-204del | |
| NM_002253.2:c.-204del | NP_002244.1:n.-204del | |
| NM_002253.3:c.-204del | NP_002244.1:n.-204del | |
| NM_002253.4:c.-204del MANE Select | NP_002244.1:n.-204del |