Linked Data
ClinVar Variation Id:
1425720
ClinVar RCV Id:
RCV001957476
dbSNP Id:
rs757376257
gnomAD v3:
8-27463337-GC-G
gnomAD v4:
8-27463337-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463343del , CM000670.2:g.27463343del | GRCh38 |
| NC_000008.10:g.27320860del , CM000670.1:g.27320860del | GRCh37 |
| NC_000008.9:g.27376777del | NCBI36 |
| NG_015827.1:g.20959del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1105del MANE Select | ENSP00000385026.1:p.Ala369ProfsTer11 | |
| ENST00000240132.7:c.1060del | ENSP00000240132.2:p.Ala354ProfsTer11 | |
| ENST00000407991.2:c.1105del | ENSP00000385026.1:p.Ala369ProfsTer11 | |
| ENST00000520600.1:n.290-1584del | ||
| ENST00000520933.7:c.1039del | ENSP00000429616.2:p.Ala347ProfsTer11 | |
| ENST00000523695.5:c.*507del | ENSP00000430612.1:n.*507del | |
| NM_000742.3:c.1105del | NP_000733.2:p.Ala369ProfsTer11 | |
| NM_001282455.1:c.1060del | NP_001269384.1:p.Ala354ProfsTer11 | |
| XM_005273397.1:c.628del | XP_005273454.1:p.Ala210ProfsTer11 | |
| XM_006716282.1:c.1105del | XP_006716345.1:p.Ala369ProfsTer11 | |
| XM_011544388.1:c.1105del | XP_011542690.1:p.Ala369ProfsTer11 | |
| XM_011544389.1:c.511del | XP_011542691.1:p.Ala171ProfsTer11 | |
| NM_001347705.1:c.628del | NP_001334634.1:p.Ala210ProfsTer11 | |
| NM_001347706.1:c.628del | NP_001334635.1:p.Ala210ProfsTer11 | |
| NM_001347707.1:c.511del | NP_001334636.1:p.Ala171ProfsTer11 | |
| NM_001347708.1:c.511del | NP_001334637.1:p.Ala171ProfsTer11 | |
| XM_011544389.2:c.511del | XP_011542691.1:p.Ala171ProfsTer11 | |
| NM_000742.4:c.1105del MANE Select | NP_000733.2:p.Ala369ProfsTer11 | |
| NM_001282455.2:c.1060del | NP_001269384.1:p.Ala354ProfsTer11 | |
| NM_001347705.2:c.628del | NP_001334634.1:p.Ala210ProfsTer11 | |
| NM_001347706.2:c.628del | NP_001334635.1:p.Ala210ProfsTer11 | |
| NM_001347707.2:c.511del | NP_001334636.1:p.Ala171ProfsTer11 | |
| NM_001347708.2:c.511del | NP_001334637.1:p.Ala171ProfsTer11 |