Linked Data
dbSNP Id:
rs2145431046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713498_6713499del , CM000681.2:g.6713498_6713499del | GRCh38 |
| NC_000019.9:g.6713509_6713510del , CM000681.1:g.6713509_6713510del | GRCh37 |
| NC_000019.8:g.6664509_6664510del | NCBI36 |
| NG_009557.1:g.12154_12155del , LRG_27:g.12154_12155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.662_663del | ENSP00000512083.1:p.Gly221GlufsTer24 | |
| ENST00000695692.1:n.109_110del | ||
| ENST00000245907.11:c.785_786del MANE Select | ENSP00000245907.4:p.Gly262GlufsTer24 | |
| ENST00000245907.10:c.785_786del | ENSP00000245907.4:p.Gly262GlufsTer24 | |
| ENST00000595577.1:n.289_290del | ||
| ENST00000597442.5:n.35_36del | ||
| NM_000064.3:c.785_786del | NP_000055.2:p.Gly262GlufsTer24 | |
| NM_000064.4:c.785_786del MANE Select | NP_000055.2:p.Gly262GlufsTer24 |