Linked Data
dbSNP Id:
rs1561618796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232506_173232509del , CM000667.2:g.173232506_173232509del | GRCh38 |
| NC_000005.9:g.172659509_172659512del , CM000667.1:g.172659509_172659512del | GRCh37 |
| NC_000005.8:g.172592115_172592118del | NCBI36 |
| NG_013340.1:g.7806_7809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.*62_*65del MANE Select | ENSP00000327758.4:n.*62_*65del | |
| ENST00000329198.4:c.*62_*65del | ENSP00000327758.4:n.*62_*65del | |
| NM_001166175.1:c.*990_*993del | NP_001159647.1:n.*990_*993del | |
| NM_001166176.1:c.*836_*839del | NP_001159648.1:n.*836_*839del | |
| NM_004387.3:c.*62_*65del | NP_004378.1:n.*62_*65del | |
| NM_004387.4:c.*62_*65del MANE Select | NP_004378.1:n.*62_*65del | |
| NM_001166175.2:c.*990_*993del | NP_001159647.1:n.*990_*993del | |
| NM_001166176.2:c.*836_*839del | NP_001159648.1:n.*836_*839del |