Linked Data
dbSNP Id:
rs770997885
ExAC:
X:47432248 TCTCA / T
gnomAD v2:
X-47432248-TCTCA-T
gnomAD v3:
X-47572849-TCTCA-T
gnomAD v4:
X-47572849-TCTCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572850_47572853del , CM000685.2:g.47572850_47572853del | GRCh38 |
| NC_000023.10:g.47432249_47432252del , CM000685.1:g.47432249_47432252del | GRCh37 |
| NC_000023.9:g.47317193_47317196del | NCBI36 |
| NG_008437.1:g.52005_52008del | |
| NG_016339.1:g.16734_16737del | |
| NG_016339.2:g.16734_16737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*11_*14del MANE Select | ENSP00000295987.7:n.*11_*14del | |
| ENST00000340666.5:c.*81_*84del | ENSP00000343206.4:n.*81_*84del | |
| ENST00000640721.1:c.179_182del | ENSP00000492857.1:n.179_182del | |
| ENST00000295987.11:c.*11_*14del | ENSP00000295987.7:n.*11_*14del | |
| ENST00000340666.4:c.*81_*84del | ENSP00000343206.4:n.*81_*84del | |
| NM_006950.3:c.*11_*14del MANE Select | NP_008881.2:n.*11_*14del | |
| NM_133499.2:c.*81_*84del | NP_598006.1:n.*81_*84del |