Linked Data
dbSNP Id:
rs1337874698
gnomAD v2:
22-19931342-TGA-T
gnomAD v3:
22-19943819-TGA-T
gnomAD v4:
22-19943819-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19943820_19943821del , CM000684.2:g.19943820_19943821del | GRCh38 |
| NC_000022.10:g.19931343_19931344del , CM000684.1:g.19931343_19931344del | GRCh37 |
| NC_000022.9:g.18311343_18311344del | NCBI36 |
| NG_011526.1:g.7081_7082del | |
| NG_011835.1:g.3016_3017del , LRG_417:g.3016_3017del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-92+1923_-92+1924del MANE Select | ENSP00000354511.6:n.-92+1923_-92+1924del | |
| ENST00000428707.2:c.-92+1923_-92+1924del | ENSP00000387695.2:n.-92+1923_-92+1924del | |
| ENST00000676678.1:c.-92+2245_-92+2246del | ENSP00000503719.1:n.-92+2245_-92+2246del | |
| ENST00000678769.1:c.-92+1923_-92+1924del | ENSP00000503289.1:n.-92+1923_-92+1924del | |
| ENST00000678868.1:c.-276+1923_-276+1924del | ENSP00000503583.1:n.-276+1923_-276+1924del | |
| ENST00000361682.10:c.-92+1923_-92+1924del | ENSP00000354511.6:n.-92+1923_-92+1924del | |
| ENST00000403184.5:c.-92+1923_-92+1924del | ENSP00000383966.1:n.-92+1923_-92+1924del | |
| ENST00000403710.5:c.-386+1923_-386+1924del | ENSP00000385917.1:n.-386+1923_-386+1924del | |
| ENST00000407537.5:c.-270+1923_-270+1924del | ENSP00000384654.2:n.-270+1923_-270+1924del | |
| ENST00000467943.5:n.105+1923_105+1924del | ||
| NM_000754.3:c.-92+1923_-92+1924del | NP_000745.1:n.-92+1923_-92+1924del | |
| XM_011529887.1:c.-92+1923_-92+1924del | XP_011528189.1:n.-92+1923_-92+1924del | |
| XM_011529890.1:c.-386+1923_-386+1924del | XP_011528192.1:n.-386+1923_-386+1924del | |
| XM_011529891.1:c.-386+1645_-386+1646del | XP_011528193.1:n.-386+1645_-386+1646del | |
| NM_001362828.1:c.-386+1923_-386+1924del | NP_001349757.1:n.-386+1923_-386+1924del | |
| XM_017028595.1:c.-386+1645_-386+1646del | XP_016884084.1:n.-386+1645_-386+1646del | |
| NM_000754.4:c.-92+1923_-92+1924del MANE Select | NP_000745.1:n.-92+1923_-92+1924del | |
| NM_001362828.2:c.-386+1923_-386+1924del | NP_001349757.1:n.-386+1923_-386+1924del |