Linked Data
dbSNP Id:
rs2146840043
gnomAD v3:
20-54650797-CTGTCCTTTTG-C
gnomAD v4:
20-54650797-CTGTCCTTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54650800_54650809del , CM000682.2:g.54650800_54650809del | GRCh38 |
| NC_000020.10:g.53267339_53267348del , CM000682.1:g.53267339_53267348del | GRCh37 |
| NC_000020.9:g.52700746_52700755del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262593.10:c.*321_*330del MANE Select | ENSP00000262593.5:n.*321_*330del | |
| ENST00000262593.9:c.*321_*330del | ENSP00000262593.5:n.*321_*330del | |
| ENST00000395939.5:c.*321_*330del | ENSP00000379270.1:n.*321_*330del | |
| NM_018431.4:c.*321_*330del | NP_060901.2:n.*321_*330del | |
| NM_177959.2:c.*321_*330del | NP_808874.1:n.*321_*330del | |
| XM_011528903.1:c.*321_*330del | XP_011527205.1:n.*321_*330del | |
| XM_011528904.1:c.*321_*330del | XP_011527206.1:n.*321_*330del | |
| XM_024451946.1:c.*321_*330del | XP_024307714.1:n.*321_*330del | |
| NM_018431.5:c.*321_*330del MANE Select | NP_060901.2:n.*321_*330del | |
| NM_177959.3:c.*321_*330del | NP_808874.1:n.*321_*330del |