Linked Data
ClinVar Variation Id:
516217
dbSNP Id:
rs3032358
gnomAD v3:
X-67545316-TGCAGCAGCAGCAGCAGCAGCAGCAGCA-T
gnomAD v4:
X-67545316-TGCAGCAGCAGCAGCAGCAGCAGCAGCA-T
COSMIC:
COSM5826565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545359_67545385del , CM000685.2:g.67545359_67545385del | GRCh38 |
| NC_000023.10:g.66765201_66765227del , CM000685.1:g.66765201_66765227del | GRCh37 |
| NC_000023.9:g.66681926_66681952del | NCBI36 |
| NG_009014.2:g.6328_6354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.213_239del | ENSP00000379358.4:p.Gln72_Gln80del | |
| ENST00000374690.9:c.213_239del MANE Select | ENSP00000363822.3:p.Gln72_Gln80del | |
| ENST00000396044.8:c.213_239del | ENSP00000379359.3:p.Gln72_Gln80del | |
| ENST00000612452.5:c.213_239del | ENSP00000484033.2:p.Gln72_Gln80del | |
| ENST00000374690.7:c.213_239del | ENSP00000363822.3:p.Gln72_Gln80del | |
| ENST00000396044.7:c.213_239del | ENSP00000379359.3:p.Gln72_Gln80del | |
| ENST00000504326.5:c.213_239del | ENSP00000421155.1:p.Gln72_Gln80del | |
| ENST00000513847.5:n.540_566del | ||
| ENST00000514029.5:c.213_239del | ENSP00000425199.1:p.Gln72_Gln80del | |
| ENST00000612010.4:c.213_239del | ENSP00000482407.1:p.Gln72_Gln80del | |
| ENST00000612452.4:c.-358_-332del | ENSP00000484033.1:n.-358_-332del | |
| ENST00000613054.2:c.213_239del | ENSP00000479013.1:p.Gln72_Gln80del | |
| NM_000044.3:c.213_239del | NP_000035.2:p.Gln72_Gln80del | |
| NM_000044.4:c.213_239del | NP_000035.2:p.Gln72_Gln80del | |
| NM_001011645.3:c.-1571_-1545del | NP_001011645.1:n.-1571_-1545del | |
| NM_001348061.1:c.213_239del | NP_001334990.1:p.Gln72_Gln80del | |
| NM_001348063.1:c.213_239del | NP_001334992.1:p.Gln72_Gln80del | |
| NM_001348064.1:c.213_239del | NP_001334993.1:p.Gln72_Gln80del | |
| NM_000044.6:c.213_239del MANE Select | NP_000035.2:p.Gln72_Gln80del |