Linked Data
dbSNP Id:
rs752533467
ExAC:
22:50662914 AGAAG / A
gnomAD v2:
22-50662914-AGAAG-A
gnomAD v4:
22-50224485-AGAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50224487_50224490del , CM000684.2:g.50224487_50224490del | GRCh38 |
| NC_000022.10:g.50662916_50662919del , CM000684.1:g.50662916_50662919del | GRCh37 |
| NC_000022.9:g.49005043_49005046del | NCBI36 |
| NG_032160.1:g.25483_25486del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.2065+22_2065+25del MANE Select | ENSP00000248846.5:n.2065+22_2065+25del | |
| ENST00000248846.9:c.2065+22_2065+25del | ENSP00000248846.5:n.2065+22_2065+25del | |
| ENST00000439308.6:c.2065+22_2065+25del | ENSP00000397387.2:n.2065+22_2065+25del | |
| ENST00000473946.1:n.374+22_374+25del | ||
| ENST00000489511.5:n.82+22_82+25del | ||
| ENST00000491449.5:n.372+22_372+25del | ||
| ENST00000498611.5:n.2598+22_2598+25del | ||
| NM_020461.3:c.2065+22_2065+25del | NP_065194.2:n.2065+22_2065+25del | |
| XR_938347.1:n.2630+22_2630+25del | ||
| XR_938348.1:n.2630+22_2630+25del | ||
| XR_001755343.2:n.2634+22_2634+25del | ||
| XR_001755344.2:n.2634+22_2634+25del | ||
| XR_002958720.1:n.2634+22_2634+25del | ||
| XR_938347.2:n.2634+22_2634+25del | ||
| NM_020461.4:c.2065+22_2065+25del MANE Select | NP_065194.3:n.2065+22_2065+25del |