Linked Data
ClinVar Variation Id:
370823
ClinVar RCV Id:
RCV000410202
dbSNP Id:
rs1057516795
gnomAD v2:
6-80816488-TCCTGGCGCGGG-T
gnomAD v4:
6-80106771-TCCTGGCGCGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106772_80106782del , CM000668.2:g.80106772_80106782del | GRCh38 |
| NC_000006.11:g.80816489_80816499del , CM000668.1:g.80816489_80816499del | GRCh37 |
| NC_000006.10:g.80873208_80873218del | NCBI36 |
| NG_009775.1:g.5146_5156del | |
| NG_009775.2:g.5146_5156del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320393.9:c.79_89del MANE Select | ENSP00000318351.5:p.Pro27AlafsTer? | |
| ENST00000320393.8:c.79_89del | ENSP00000318351.5:p.Pro27AlafsTer? | |
| ENST00000356489.9:c.79_89del | ENSP00000348880.5:p.Pro27AlafsTer? | |
| ENST00000369760.8:c.79_89del | ENSP00000358775.4:p.Pro27AlafsTer? | |
| NM_000056.3:c.79_89del | NP_000047.1:p.Pro27AlafsTer? | |
| NM_183050.2:c.79_89del | NP_898871.1:p.Pro27AlafsTer? | |
| XM_005248756.3:c.79_89del | XP_005248813.1:p.Pro27AlafsTer? | |
| XM_006715542.2:c.-15+89_-15+99del | XP_006715605.1:n.-15+89_-15+99del | |
| XM_011536023.1:c.79_89del | XP_011534325.1:p.Pro27AlafsTer? | |
| XM_011536024.1:c.79_89del | XP_011534326.1:p.Pro27AlafsTer? | |
| XM_011536025.1:c.79_89del | XP_011534327.1:p.Pro27AlafsTer? | |
| XM_011536027.1:c.79_89del | XP_011534329.1:p.Pro27AlafsTer? | |
| NM_000056.4:c.79_89del | NP_000047.1:p.Pro27AlafsTer? | |
| NM_001318975.1:c.-15+89_-15+99del | NP_001305904.1:n.-15+89_-15+99del | |
| NM_183050.3:c.79_89del | NP_898871.1:p.Pro27AlafsTer? | |
| NR_134945.1:n.163_173del | ||
| XM_005248756.5:c.79_89del | XP_005248813.1:p.Pro27AlafsTer? | |
| XM_011536023.3:c.79_89del | XP_011534325.1:p.Pro27AlafsTer? | |
| XM_011536024.3:c.79_89del | XP_011534326.1:p.Pro27AlafsTer? | |
| XM_011536025.3:c.79_89del | XP_011534327.1:p.Pro27AlafsTer? | |
| XR_001743546.2:n.109_119del | ||
| XR_001743547.2:n.109_119del | ||
| XR_001743548.2:n.109_119del | ||
| XR_001743549.2:n.109_119del | ||
| XR_002956292.1:n.109_119del | ||
| NM_183050.4:c.79_89del MANE Select | NP_898871.1:p.Pro27AlafsTer? | |
| NR_134945.2:n.102_112del | ||
| NM_000056.5:c.79_89del | NP_000047.1:p.Pro27AlafsTer? |