Linked Data
dbSNP Id:
rs1599524897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713443_6713444del , CM000681.2:g.6713443_6713444del | GRCh38 |
| NC_000019.9:g.6713454_6713455del , CM000681.1:g.6713454_6713455del | GRCh37 |
| NC_000019.8:g.6664454_6664455del | NCBI36 |
| NG_009557.1:g.12210_12211del , LRG_27:g.12210_12211del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.718_719del | ENSP00000512083.1:p.Arg240AspfsTer5 | |
| ENST00000695692.1:n.165_166del | ||
| ENST00000245907.11:c.841_842del MANE Select | ENSP00000245907.4:p.Arg281AspfsTer5 | |
| ENST00000245907.10:c.841_842del | ENSP00000245907.4:p.Arg281AspfsTer5 | |
| ENST00000595577.1:n.345_346del | ||
| ENST00000597442.5:n.91_92del | ||
| NM_000064.3:c.841_842del | NP_000055.2:p.Arg281AspfsTer5 | |
| NM_000064.4:c.841_842del MANE Select | NP_000055.2:p.Arg281AspfsTer5 |