Linked Data
gnomAD v4:
X-25010169-CCCCCGCACCCCCCCGCCACCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010173_25010194del , CM000685.2:g.25010173_25010194del | GRCh38 |
| NC_000023.10:g.25028290_25028311del , CM000685.1:g.25028290_25028311del | GRCh37 |
| NC_000023.9:g.24938211_24938232del | NCBI36 |
| NG_008281.1:g.10758_10779del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1119+69_1119+90del MANE Select | ENSP00000368332.4:n.1119+69_1119+90del | |
| ENST00000379044.4:c.1119+69_1119+90del | ENSP00000368332.4:n.1119+69_1119+90del | |
| NM_139058.2:c.1119+69_1119+90del | NP_620689.1:n.1119+69_1119+90del | |
| NM_139058.3:c.1119+69_1119+90del MANE Select | NP_620689.1:n.1119+69_1119+90del |