Linked Data
dbSNP Id:
rs1405796383
gnomAD v2:
2-206986992-CCTG-C
gnomAD v3:
2-206122268-CCTG-C
gnomAD v4:
2-206122268-CCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206122272_206122274del , CM000664.2:g.206122272_206122274del | GRCh38 |
| NC_000002.11:g.206986996_206986998del , CM000664.1:g.206986996_206986998del | GRCh37 |
| NC_000002.10:g.206695241_206695243del | NCBI36 |
| NG_009248.1:g.42193_42195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.*1914_*1916del MANE Select | ENSP00000233190.5:n.*1914_*1916del | |
| ENST00000233190.10:c.*1914_*1916del | ENSP00000233190.5:n.*1914_*1916del | |
| NM_001199981.2:c.*1914_*1916del | NP_001186910.1:n.*1914_*1916del | |
| NM_001199982.2:c.*1914_*1916del | NP_001186911.1:n.*1914_*1916del | |
| NM_001199983.2:c.*1914_*1916del | NP_001186912.1:n.*1914_*1916del | |
| NM_005006.7:c.*1914_*1916del MANE Select | NP_004997.4:n.*1914_*1916del | |
| NM_001199984.2:c.*1914_*1916del | NP_001186913.1:n.*1914_*1916del |