Linked Data
gnomAD v4:
4-55125498-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125499del , CM000666.2:g.55125499del | GRCh38 |
| NC_000004.11:g.55991666del , CM000666.1:g.55991666del | GRCh37 |
| NC_000004.10:g.55686423del | NCBI36 |
| NG_012004.1:g.5097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-206del MANE Select | ENSP00000263923.4:n.-206del | |
| ENST00000263923.4:c.-206del | ENSP00000263923.4:n.-206del | |
| NM_002253.2:c.-206del | NP_002244.1:n.-206del | |
| NM_002253.3:c.-206del | NP_002244.1:n.-206del | |
| NM_002253.4:c.-206del MANE Select | NP_002244.1:n.-206del |