Linked Data
gnomAD v4:
19-6713787-CCACCTGGTCCCACCCCCAGCCCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713793_6713816del , CM000681.2:g.6713793_6713816del | GRCh38 |
| NC_000019.9:g.6713804_6713827del , CM000681.1:g.6713804_6713827del | GRCh37 |
| NC_000019.8:g.6664804_6664827del | NCBI36 |
| NG_009557.1:g.11841_11864del , LRG_27:g.11841_11864del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.650+181_650+204del | ENSP00000512083.1:n.650+181_650+204del | |
| ENST00000245907.11:c.773+181_773+204del MANE Select | ENSP00000245907.4:n.773+181_773+204del | |
| ENST00000245907.10:c.773+181_773+204del | ENSP00000245907.4:n.773+181_773+204del | |
| ENST00000595577.1:n.277+181_277+204del | ||
| NM_000064.3:c.773+181_773+204del | NP_000055.2:n.773+181_773+204del | |
| NM_000064.4:c.773+181_773+204del MANE Select | NP_000055.2:n.773+181_773+204del |