Linked Data
gnomAD v4:
X-25006961-TAGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25006964_25006967del , CM000685.2:g.25006964_25006967del | GRCh38 |
| NC_000023.10:g.25025081_25025084del , CM000685.1:g.25025081_25025084del | GRCh37 |
| NC_000023.9:g.24935002_24935005del | NCBI36 |
| NG_008281.1:g.13984_13987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1448+146_1448+149del MANE Select | ENSP00000368332.4:n.1448+146_1448+149del | |
| ENST00000637993.1:c.61+146_61+149del | ||
| ENST00000379044.4:c.1448+146_1448+149del | ENSP00000368332.4:n.1448+146_1448+149del | |
| NM_139058.2:c.1448+146_1448+149del | NP_620689.1:n.1448+146_1448+149del | |
| NM_139058.3:c.1448+146_1448+149del MANE Select | NP_620689.1:n.1448+146_1448+149del |