Linked Data
dbSNP Id:
rs1967963404
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713441_6713443del , CM000681.2:g.6713441_6713443del | GRCh38 |
| NC_000019.9:g.6713452_6713454del , CM000681.1:g.6713452_6713454del | GRCh37 |
| NC_000019.8:g.6664452_6664454del | NCBI36 |
| NG_009557.1:g.12211_12213del , LRG_27:g.12211_12213del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.719_721del | ENSP00000512083.1:p.Arg240del | |
| ENST00000695692.1:n.166_168del | ||
| ENST00000245907.11:c.842_844del MANE Select | ENSP00000245907.4:p.Arg281del | |
| ENST00000245907.10:c.842_844del | ENSP00000245907.4:p.Arg281del | |
| ENST00000595577.1:n.346_348del | ||
| ENST00000597442.5:n.92_94del | ||
| NM_000064.3:c.842_844del | NP_000055.2:p.Arg281del | |
| NM_000064.4:c.842_844del MANE Select | NP_000055.2:p.Arg281del |