Linked Data
dbSNP Id:
rs1486498246
gnomAD v2:
7-86444803-CA-C
gnomAD v3:
7-86815487-CA-C
gnomAD v4:
7-86815487-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86815491del , CM000669.2:g.86815491del | GRCh38 |
| NC_000007.13:g.86444807del , CM000669.1:g.86444807del | GRCh37 |
| NC_000007.12:g.86282743del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.1325-23348del MANE Select | ENSP00000355316.2:n.1325-23348del | |
| ENST00000361669.6:c.1325-23348del | ENSP00000355316.2:n.1325-23348del | |
| ENST00000439827.1:c.1324+28375del | ENSP00000398767.1:n.1324+28375del | |
| NM_000840.2:c.1325-23348del | NP_000831.2:n.1325-23348del | |
| XM_011516088.1:c.1324+28375del | XP_011514390.1:n.1324+28375del | |
| XM_011516090.1:c.1325-17531del | XP_011514392.1:n.1325-17531del | |
| NM_001363522.1:c.1324+28375del | NP_001350451.1:n.1324+28375del | |
| NM_000840.3:c.1325-23348del MANE Select | NP_000831.2:n.1325-23348del | |
| NM_001363522.2:c.1324+28375del | NP_001350451.1:n.1324+28375del |