Linked Data
dbSNP Id:
rs2064498511
gnomAD v3:
22-50220450-CTGGGACGTG-C
gnomAD v4:
22-50220450-CTGGGACGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220454_50220462del , CM000684.2:g.50220454_50220462del | GRCh38 |
| NC_000022.10:g.50658883_50658891del , CM000684.1:g.50658883_50658891del | GRCh37 |
| NC_000022.9:g.49001010_49001018del | NCBI36 |
| NG_032160.1:g.29513_29521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3900_3908del MANE Select | ENSP00000248846.5:p.His1300_Ser1302del | |
| ENST00000248846.9:c.3900_3908del | ENSP00000248846.5:p.His1300_Ser1302del | |
| ENST00000439308.6:c.3900_3908del | ENSP00000397387.2:p.His1300_Ser1302del | |
| ENST00000491449.5:n.2207_2215del | ||
| ENST00000498611.5:n.3618-444_3618-436del | ||
| NM_020461.3:c.3900_3908del | NP_065194.2:p.His1300_Ser1302del | |
| XR_938347.1:n.4465_4473del | ||
| XR_938348.1:n.3050-444_3050-436del | ||
| XR_001755343.2:n.4469_4477del | ||
| XR_001755344.2:n.4469_4477del | ||
| XR_002958720.1:n.3054-444_3054-436del | ||
| XR_938347.2:n.4469_4477del | ||
| NM_020461.4:c.3900_3908del MANE Select | NP_065194.3:p.His1300_Ser1302del |