Linked Data
ClinVar Variation Id:
1629823
ClinVar RCV Id:
RCV002118606
dbSNP Id:
rs753526329
ExAC:
X:66765242 G / GGCA
gnomAD v2:
X-66765242-G-GGCA
gnomAD v3:
X-67545400-G-GGCA
gnomAD v4:
X-67545400-G-GGCA
COSMIC:
COSM5132359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545417_67545419dup , CM000685.2:g.67545417_67545419dup | GRCh38 |
| NC_000023.10:g.66765259_66765261dup , CM000685.1:g.66765259_66765261dup | GRCh37 |
| NC_000023.9:g.66681984_66681986dup | NCBI36 |
| NG_009014.2:g.6386_6388dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.271_273dup | ENSP00000379358.4:p.Gln91_Gly92insGln | |
| ENST00000374690.9:c.271_273dup MANE Select | ENSP00000363822.3:p.Gln91_Gly92insGln | |
| ENST00000396044.8:c.271_273dup | ENSP00000379359.3:p.Gln91_Gly92insGln | |
| ENST00000612452.5:c.271_273dup | ENSP00000484033.2:p.Gln91_Gly92insGln | |
| ENST00000374690.7:c.271_273dup | ENSP00000363822.3:p.Gln91_Gly92insGln | |
| ENST00000396044.7:c.271_273dup | ENSP00000379359.3:p.Gln91_Gly92insGln | |
| ENST00000504326.5:c.271_273dup | ENSP00000421155.1:p.Gln91_Gly92insGln | |
| ENST00000513847.5:n.598_600dup | ||
| ENST00000514029.5:c.271_273dup | ENSP00000425199.1:p.Gln91_Gly92insGln | |
| ENST00000612010.4:c.271_273dup | ENSP00000482407.1:p.Gln91_Gly92insGln | |
| ENST00000612452.4:c.-300_-298dup | ENSP00000484033.1:n.-300_-298dup | |
| ENST00000613054.2:c.271_273dup | ENSP00000479013.1:p.Gln91_Gly92insGln | |
| NM_000044.3:c.271_273dup | NP_000035.2:p.Gln91_Gly92insGln | |
| NM_000044.4:c.271_273dup | NP_000035.2:p.Gln91_Gly92insGln | |
| NM_001011645.3:c.-1513_-1511dup | NP_001011645.1:n.-1513_-1511dup | |
| NM_001348061.1:c.271_273dup | NP_001334990.1:p.Gln91_Gly92insGln | |
| NM_001348063.1:c.271_273dup | NP_001334992.1:p.Gln91_Gly92insGln | |
| NM_001348064.1:c.271_273dup | NP_001334993.1:p.Gln91_Gly92insGln | |
| NM_000044.6:c.271_273dup MANE Select | NP_000035.2:p.Gln91_Gly92insGln |