Linked Data
dbSNP Id:
rs1172438324
gnomAD v3:
X-153741179-CAT-C
gnomAD v4:
X-153741179-CAT-C
MyVariant Identifiers:
chrX:g.153741180_153741181del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153741180_153741181del , CM000685.2:g.153741180_153741181del | GRCh38 |
| NC_000023.10:g.153006634_153006635del , CM000685.1:g.153006634_153006635del | GRCh37 |
| NC_000023.9:g.152659828_152659829del | NCBI36 |
| NG_009022.2:g.21313_21314del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+461_1780+462del MANE Select | ENSP00000218104.3:n.1780+461_1780+462del | |
| ENST00000218104.5:c.1780+461_1780+462del | ENSP00000218104.3:n.1780+461_1780+462del | |
| NM_000033.3:c.1780+461_1780+462del | NP_000024.2:n.1780+461_1780+462del | |
| XR_938507.1:n.2252+461_2252+462del | ||
| XR_938507.2:n.2252+461_2252+462del | ||
| NM_000033.4:c.1780+461_1780+462del MANE Select | NP_000024.2:n.1780+461_1780+462del |