ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814495del , CM000678.2:g.88814495del | GRCh38 |
| NC_000016.9:g.88880903del , CM000678.1:g.88880903del | GRCh37 |
| NC_000016.8:g.87408404del | NCBI36 |
| NG_008013.1:g.2442del | |
| NG_008667.1:g.47474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1515del MANE Select | ENSP00000268695.5:p.Lys506SerfsTer3 | |
| ENST00000268695.9:c.1515del | ENSP00000268695.5:p.Lys506SerfsTer3 | |
| ENST00000562593.5:n.4924del | ||
| ENST00000567525.5:c.1196del | ENSP00000454484.1:n.1196del | |
| ENST00000568613.5:c.1634del | ENSP00000457921.1:n.1634del | |
| NM_000512.4:c.1515del | NP_000503.1:p.Lys506SerfsTer3 | |
| XM_005256302.1:c.1533del | XP_005256359.1:p.Lys512SerfsTer3 | |
| NM_001323543.1:c.960del | NP_001310472.1:p.Lys321SerfsTer3 | |
| NM_001323544.1:c.1533del | NP_001310473.1:p.Lys512SerfsTer3 | |
| XM_005256301.3:c.*2679del | XP_005256358.1:n.*2679del | |
| XM_011522982.2:c.*2679del | XP_011521284.1:n.*2679del | |
| XM_017023112.2:c.*2937del | XP_016878601.1:n.*2937del | |
| XM_017023113.1:c.*2679del | XP_016878602.1:n.*2679del | |
| NM_000512.5:c.1515del MANE Select | NP_000503.1:p.Lys506SerfsTer3 | |
| NM_001323543.2:c.960del | NP_001310472.1:p.Lys321SerfsTer3 | |
| NM_001323544.2:c.1533del | NP_001310473.1:p.Lys512SerfsTer3 |