Linked Data
gnomAD v4:
4-55125455-AGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125458_55125459del , CM000666.2:g.55125458_55125459del | GRCh38 |
| NC_000004.11:g.55991625_55991626del , CM000666.1:g.55991625_55991626del | GRCh37 |
| NC_000004.10:g.55686382_55686383del | NCBI36 |
| NG_012004.1:g.5139_5140del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-164_-163del MANE Select | ENSP00000263923.4:n.-164_-163del | |
| ENST00000263923.4:c.-164_-163del | ENSP00000263923.4:n.-164_-163del | |
| NM_002253.2:c.-164_-163del | NP_002244.1:n.-164_-163del | |
| NM_002253.3:c.-164_-163del | NP_002244.1:n.-164_-163del | |
| NM_002253.4:c.-164_-163del MANE Select | NP_002244.1:n.-164_-163del |