Linked Data
gnomAD v4:
X-54495013-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495015_54495016del , CM000685.2:g.54495015_54495016del | GRCh38 |
| NC_000023.10:g.54521448_54521449del , CM000685.1:g.54521448_54521449del | GRCh37 |
| NC_000023.9:g.54538173_54538174del | NCBI36 |
| NG_008054.1:g.6152_6153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.307+111_307+112del MANE Select | ENSP00000364277.3:n.307+111_307+112del | |
| ENST00000375135.3:c.307+111_307+112del | ENSP00000364277.3:n.307+111_307+112del | |
| NM_004463.2:c.307+111_307+112del | NP_004454.2:n.307+111_307+112del | |
| NM_004463.3:c.307+111_307+112del MANE Select | NP_004454.2:n.307+111_307+112del |