Linked Data
dbSNP Id:
rs2151821592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075559_8075565del , CM000679.2:g.8075559_8075565del | GRCh38 |
| NC_000017.10:g.7978877_7978883del , CM000679.1:g.7978877_7978883del | GRCh37 |
| NC_000017.9:g.7919602_7919608del | NCBI36 |
| NG_007099.1:g.17143_17149del | |
| NG_007099.2:g.17156_17162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1654+34_1654+40del MANE Select | ENSP00000497784.1:n.1654+34_1654+40del | |
| ENST00000649809.1:c.718+34_718+40del | ENSP00000496845.1:n.718+34_718+40del | |
| ENST00000319144.4:c.1654+34_1654+40del | ENSP00000315167.4:n.1654+34_1654+40del | |
| ENST00000577351.5:n.479+614_479+620del | ||
| NM_001139.2:c.1654+34_1654+40del | NP_001130.1:n.1654+34_1654+40del | |
| NM_001139.3:c.1654+34_1654+40del MANE Select | NP_001130.1:n.1654+34_1654+40del |