Linked Data
dbSNP Id:
rs1205229258
gnomAD v2:
1-179528715-AT-A
gnomAD v3:
1-179559580-AT-A
gnomAD v4:
1-179559580-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179559585del , CM000663.2:g.179559585del | GRCh38 |
| NC_000001.10:g.179528720del , CM000663.1:g.179528720del | GRCh37 |
| NC_000001.9:g.177795343del | NCBI36 |
| NG_007535.1:g.21369del , LRG_887:g.21369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.534+98del MANE Select | ENSP00000356587.4:n.534+98del | |
| ENST00000367615.8:c.534+98del | ENSP00000356587.4:n.534+98del | |
| ENST00000367616.4:c.534+98del | ENSP00000356588.4:n.534+98del | |
| NM_001297575.1:c.534+98del | NP_001284504.1:n.534+98del | |
| NM_014625.3:c.534+98del , LRG_887t1:c.534+98del | NP_055440.1:n.534+98del | |
| XM_005245483.2:c.357+98del | XP_005245540.1:n.357+98del | |
| XM_006711529.2:c.534+98del | XP_006711592.1:n.534+98del | |
| XM_005245483.3:c.357+98del | XP_005245540.1:n.357+98del | |
| XM_017002298.1:c.461+98del | XP_016857787.1:n.461+98del | |
| XM_017002299.1:c.534+98del | XP_016857788.1:n.534+98del | |
| NM_001297575.2:c.534+98del | NP_001284504.1:n.534+98del | |
| NM_014625.4:c.534+98del MANE Select | NP_055440.1:n.534+98del |