Linked Data
ClinVar Variation Id:
1016942
ClinVar RCV Id:
RCV001316019
dbSNP Id:
rs2064505303
gnomAD v2:
22-50659166-TGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGC-T
gnomAD v3:
22-50220737-TGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220783_50220863del , CM000684.2:g.50220783_50220863del | GRCh38 |
| NC_000022.10:g.50659212_50659292del , CM000684.1:g.50659212_50659292del | GRCh37 |
| NC_000022.9:g.49001339_49001419del | NCBI36 |
| NG_032160.1:g.29154_29234del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3541_3621del MANE Select | ENSP00000248846.5:p.Ala1181_Pro1207del | |
| ENST00000248846.9:c.3541_3621del | ENSP00000248846.5:p.Ala1181_Pro1207del | |
| ENST00000439308.6:c.3541_3621del | ENSP00000397387.2:p.Ala1181_Pro1207del | |
| ENST00000491449.5:n.1848_1928del | ||
| ENST00000498611.5:n.3617+457_3617+537del | ||
| NM_020461.3:c.3541_3621del | NP_065194.2:p.Ala1181_Pro1207del | |
| XR_938347.1:n.4106_4186del | ||
| XR_938348.1:n.3050-803_3050-723del | ||
| XR_001755343.2:n.4110_4190del | ||
| XR_001755344.2:n.4110_4190del | ||
| XR_002958720.1:n.3054-803_3054-723del | ||
| XR_938347.2:n.4110_4190del | ||
| NM_020461.4:c.3541_3621del MANE Select | NP_065194.3:p.Ala1181_Pro1207del |