Linked Data
ClinVar Variation Id:
503494
dbSNP Id:
rs781928603
gnomAD v3:
X-154947224-GAAAAAAAAAAAAA-G
gnomAD v4:
X-154947224-GAAAAAAAAAAAAA-G
MyVariant Identifiers:
chrX:g.154947225_154947237del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154947237_154947249del , CM000685.2:g.154947237_154947249del | GRCh38 |
| NC_000023.10:g.154175512_154175524del , CM000685.1:g.154175512_154175524del | GRCh37 |
| NC_000023.9:g.153828706_153828718del | NCBI36 |
| NG_011403.1:g.80487_80499del | |
| NG_011403.2:g.80487_80499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.2113+461_2113+473del MANE Select | ENSP00000353393.4:n.2113+461_2113+473del | |
| ENST00000647125.1:c.*1779+6655_*1779+6667del | ENSP00000496062.1:n.*1779+6655_*1779+6667del | |
| ENST00000360256.8:c.2113+461_2113+473del | ENSP00000353393.4:n.2113+461_2113+473del | |
| NM_000132.3:c.2113+461_2113+473del | NP_000123.1:n.2113+461_2113+473del | |
| XM_011531126.1:c.2008+461_2008+473del | XP_011529428.1:n.2008+461_2008+473del | |
| NM_000132.4:c.2113+461_2113+473del MANE Select | NP_000123.1:n.2113+461_2113+473del |