Linked Data
dbSNP Id:
rs1569493953
gnomAD v2:
X-48546497-CAG-C
gnomAD v4:
X-48688108-CAG-C
MyVariant Identifiers:
chrX:g.48546498_48546499del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688111_48688112del , CM000685.2:g.48688111_48688112del | GRCh38 |
| NC_000023.10:g.48546500_48546501del , CM000685.1:g.48546500_48546501del | GRCh37 |
| NC_000023.9:g.48431444_48431445del | NCBI36 |
| NG_007877.1:g.9315_9316del , LRG_125:g.9315_9316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483750.6:n.825_826del | ||
| ENST00000490627.2:n.229_230del | ||
| ENST00000698625.1:c.777+15_777+16del | ENSP00000513844.1:n.777+15_777+16del | |
| ENST00000698626.1:c.777+15_777+16del | ENSP00000513845.1:n.777+15_777+16del | |
| ENST00000698635.1:c.777+15_777+16del | ENSP00000513850.1:n.777+15_777+16del | |
| ENST00000376701.5:c.777+15_777+16del MANE Select | ENSP00000365891.4:n.777+15_777+16del | |
| ENST00000376701.4:c.777+15_777+16del | ENSP00000365891.4:n.777+15_777+16del | |
| ENST00000465982.5:n.692_693del | ||
| ENST00000483750.5:n.818_819del | ||
| ENST00000490627.1:n.212_213del | ||
| NM_000377.2:c.777+15_777+16del , LRG_125t1:c.777+15_777+16del | NP_000368.1:n.777+15_777+16del | |
| XM_011543977.1:c.777+15_777+16del | XP_011542279.1:n.777+15_777+16del | |
| XM_011543977.2:c.777+15_777+16del | XP_011542279.1:n.777+15_777+16del | |
| XM_017029786.1:c.777+15_777+16del | XP_016885275.1:n.777+15_777+16del | |
| NM_000377.3:c.777+15_777+16del MANE Select | NP_000368.1:n.777+15_777+16del |