Linked Data
dbSNP Id:
rs757233412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146138_38146140del , CM000670.2:g.38146138_38146140del | GRCh38 |
| NC_000008.10:g.38003656_38003658del , CM000670.1:g.38003656_38003658del | GRCh37 |
| NC_000008.9:g.38122813_38122815del | NCBI36 |
| NG_011827.1:g.9946_9948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.476_478del MANE Select | ENSP00000276449.3:p.Lys159del | |
| ENST00000276449.8:c.476_478del | ENSP00000276449.3:p.Lys159del | |
| ENST00000520114.1:n.963_965del | ||
| ENST00000522050.1:c.412_414del | ||
| NM_000349.2:c.476_478del | NP_000340.2:p.Lys159del | |
| XM_006716392.1:c.476_478del | XP_006716455.1:p.Lys159del | |
| NM_000349.3:c.476_478del MANE Select | NP_000340.2:p.Lys159del |