Linked Data
dbSNP Id:
rs1941784397
gnomAD v3:
22-19943647-AAAAAAT-A
gnomAD v4:
22-19943647-AAAAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19943650_19943655del , CM000684.2:g.19943650_19943655del | GRCh38 |
| NC_000022.10:g.19931173_19931178del , CM000684.1:g.19931173_19931178del | GRCh37 |
| NC_000022.9:g.18311173_18311178del | NCBI36 |
| NG_011526.1:g.6911_6916del | |
| NG_011835.1:g.3184_3189del , LRG_417:g.3184_3189del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-92+1753_-92+1758del MANE Select | ENSP00000354511.6:n.-92+1753_-92+1758del | |
| ENST00000428707.2:c.-92+1753_-92+1758del | ENSP00000387695.2:n.-92+1753_-92+1758del | |
| ENST00000676678.1:c.-92+2075_-92+2080del | ENSP00000503719.1:n.-92+2075_-92+2080del | |
| ENST00000678769.1:c.-92+1753_-92+1758del | ENSP00000503289.1:n.-92+1753_-92+1758del | |
| ENST00000678868.1:c.-276+1753_-276+1758del | ENSP00000503583.1:n.-276+1753_-276+1758del | |
| ENST00000361682.10:c.-92+1753_-92+1758del | ENSP00000354511.6:n.-92+1753_-92+1758del | |
| ENST00000403184.5:c.-92+1753_-92+1758del | ENSP00000383966.1:n.-92+1753_-92+1758del | |
| ENST00000403710.5:c.-386+1753_-386+1758del | ENSP00000385917.1:n.-386+1753_-386+1758del | |
| ENST00000407537.5:c.-270+1753_-270+1758del | ENSP00000384654.2:n.-270+1753_-270+1758del | |
| ENST00000467943.5:n.105+1753_105+1758del | ||
| NM_000754.3:c.-92+1753_-92+1758del | NP_000745.1:n.-92+1753_-92+1758del | |
| XM_011529887.1:c.-92+1753_-92+1758del | XP_011528189.1:n.-92+1753_-92+1758del | |
| XM_011529890.1:c.-386+1753_-386+1758del | XP_011528192.1:n.-386+1753_-386+1758del | |
| XM_011529891.1:c.-386+1475_-386+1480del | XP_011528193.1:n.-386+1475_-386+1480del | |
| NM_001362828.1:c.-386+1753_-386+1758del | NP_001349757.1:n.-386+1753_-386+1758del | |
| XM_017028595.1:c.-386+1475_-386+1480del | XP_016884084.1:n.-386+1475_-386+1480del | |
| NM_000754.4:c.-92+1753_-92+1758del MANE Select | NP_000745.1:n.-92+1753_-92+1758del | |
| NM_001362828.2:c.-386+1753_-386+1758del | NP_001349757.1:n.-386+1753_-386+1758del |