Linked Data
ClinVar Variation Id:
9848
ClinVar RCV Id:
RCV000010522
dbSNP Id:
rs759327087
MyVariant Identifiers:
chrX:g.66765167dupA (hg19)
chrX:g.66765167_66765168insA (hg19)
chrX:g.67545325dupA (hg38)
chrX:g.67545325_67545326insA (hg38)
PubMed:
PMID:10323385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545325dup , CM000685.2:g.67545325dup | GRCh38 |
| NC_000023.10:g.66765167dup , CM000685.1:g.66765167dup | GRCh37 |
| NC_000023.9:g.66681892dup | NCBI36 |
| NG_009014.2:g.6294dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.179dup | ENSP00000379358.4:p.Gln61AlafsTer23 | |
| ENST00000374690.9:c.179dup MANE Select | ENSP00000363822.3:p.Gln61AlafsTer23 | |
| ENST00000396044.8:c.179dup | ENSP00000379359.3:p.Gln61AlafsTer23 | |
| ENST00000612452.5:c.179dup | ENSP00000484033.2:p.Gln61AlafsTer23 | |
| ENST00000374690.7:c.179dup | ENSP00000363822.3:p.Gln61AlafsTer23 | |
| ENST00000396044.7:c.179dup | ENSP00000379359.3:p.Gln61AlafsTer23 | |
| ENST00000504326.5:c.179dup | ENSP00000421155.1:p.Gln61AlafsTer23 | |
| ENST00000513847.5:n.506dup | ||
| ENST00000514029.5:c.179dup | ENSP00000425199.1:p.Gln61AlafsTer23 | |
| ENST00000612010.4:c.179dup | ENSP00000482407.1:p.Gln61AlafsTer23 | |
| ENST00000612452.4:c.-392dup | ENSP00000484033.1:n.-392dup | |
| ENST00000613054.2:c.179dup | ENSP00000479013.1:p.Gln61AlafsTer23 | |
| NM_000044.3:c.179dup | NP_000035.2:p.Gln61AlafsTer23 | |
| NM_000044.4:c.179dup | NP_000035.2:p.Gln61AlafsTer23 | |
| NM_001011645.3:c.-1605dup | NP_001011645.1:n.-1605dup | |
| NM_001348061.1:c.179dup | NP_001334990.1:p.Gln61AlafsTer23 | |
| NM_001348063.1:c.179dup | NP_001334992.1:p.Gln61AlafsTer23 | |
| NM_001348064.1:c.179dup | NP_001334993.1:p.Gln61AlafsTer23 | |
| NM_000044.6:c.179dup MANE Select | NP_000035.2:p.Gln61AlafsTer23 |