Linked Data
dbSNP Id:
rs2080438566
gnomAD v3:
X-68829642-GGGAGCACTTCAAGGCCGGCGGCTGC-G
gnomAD v4:
X-68829642-GGGAGCACTTCAAGGCCGGCGGCTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829647_68829671del , CM000685.2:g.68829647_68829671del | GRCh38 |
| NC_000023.10:g.68049490_68049514del , CM000685.1:g.68049490_68049514del | GRCh37 |
| NC_000023.9:g.67966215_67966239del | NCBI36 |
| NG_008887.1:g.5651_5675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.-130_-106del MANE Select | ENSP00000204961.4:n.-130_-106del | |
| ENST00000204961.4:c.-130_-106del | ENSP00000204961.4:n.-130_-106del | |
| NM_004429.4:c.-130_-106del | NP_004420.1:n.-130_-106del | |
| NM_004429.5:c.-130_-106del MANE Select | NP_004420.1:n.-130_-106del |