Linked Data
dbSNP Id:
rs1237563507
gnomAD v2:
7-146829978-AC-A
gnomAD v3:
7-147132886-AC-A
gnomAD v4:
7-147132886-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132888del , CM000669.2:g.147132888del | GRCh38 |
| NC_000007.13:g.146829980del , CM000669.1:g.146829980del | GRCh37 |
| NC_000007.12:g.146460913del | NCBI36 |
| NG_007092.2:g.1021528del | |
| NG_007092.3:g.1021888del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1348+379del MANE Select | ENSP00000354778.3:n.1348+379del | |
| ENST00000636561.1:n.1251+379del | ||
| ENST00000636870.1:n.1210+379del | ||
| ENST00000637150.1:n.1277+379del | ||
| ENST00000637694.1:n.1251+379del | ||
| ENST00000637825.1:n.831+379del | ||
| ENST00000638117.1:n.1251+379del | ||
| ENST00000361727.7:c.1348+379del | ENSP00000354778.3:n.1348+379del | |
| NM_014141.5:c.1348+379del | NP_054860.1:n.1348+379del | |
| XM_017011950.2:c.1348+379del | XP_016867439.1:n.1348+379del | |
| NM_014141.6:c.1348+379del MANE Select | NP_054860.1:n.1348+379del |