Linked Data
gnomAD v4:
4-55125458-GGCGTCTGCGGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125461_55125472del , CM000666.2:g.55125461_55125472del | GRCh38 |
| NC_000004.11:g.55991628_55991639del , CM000666.1:g.55991628_55991639del | GRCh37 |
| NC_000004.10:g.55686385_55686396del | NCBI36 |
| NG_012004.1:g.5126_5137del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.-177_-166del MANE Select | ENSP00000263923.4:n.-177_-166del | |
| ENST00000263923.4:c.-177_-166del | ENSP00000263923.4:n.-177_-166del | |
| NM_002253.2:c.-177_-166del | NP_002244.1:n.-177_-166del | |
| NM_002253.3:c.-177_-166del | NP_002244.1:n.-177_-166del | |
| NM_002253.4:c.-177_-166del MANE Select | NP_002244.1:n.-177_-166del |