Linked Data
gnomAD v4:
X-25012852-G-GCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012854_25012855dup , CM000685.2:g.25012854_25012855dup | GRCh38 |
| NC_000023.10:g.25030971_25030972dup , CM000685.1:g.25030971_25030972dup | GRCh37 |
| NC_000023.9:g.24940892_24940893dup | NCBI36 |
| NG_008281.1:g.8095_8096dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1073+68_1073+69dup MANE Select | ENSP00000368332.4:n.1073+68_1073+69dup | |
| ENST00000379044.4:c.1073+68_1073+69dup | ENSP00000368332.4:n.1073+68_1073+69dup | |
| NM_139058.2:c.1073+68_1073+69dup | NP_620689.1:n.1073+68_1073+69dup | |
| NM_139058.3:c.1073+68_1073+69dup MANE Select | NP_620689.1:n.1073+68_1073+69dup |