Linked Data
dbSNP Id:
rs1581634566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290493_24290494del , CM000668.2:g.24290493_24290494del | GRCh38 |
| NC_000006.11:g.24290721_24290722del , CM000668.1:g.24290721_24290722del | GRCh37 |
| NC_000006.10:g.24398700_24398701del | NCBI36 |
| NG_012829.1:g.72560_72561del | |
| NG_012829.2:g.97800_97801del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+439_704+440del MANE Select | ENSP00000367715.3:n.704+439_704+440del | |
| ENST00000378454.7:c.704+439_704+440del | ENSP00000367715.3:n.704+439_704+440del | |
| NM_001195610.1:c.704+439_704+440del | NP_001182539.1:n.704+439_704+440del | |
| NM_016356.4:c.704+439_704+440del | NP_057440.2:n.704+439_704+440del | |
| NM_016356.5:c.704+439_704+440del MANE Select | NP_057440.2:n.704+439_704+440del | |
| NM_001195610.2:c.704+439_704+440del | NP_001182539.1:n.704+439_704+440del |