Linked Data
dbSNP Id:
rs1211617286
gnomAD v3:
11-128891437-CACACAGAGAGAG-C
gnomAD v4:
11-128891437-CACACAGAGAGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891439_128891450del , CM000673.2:g.128891439_128891450del | GRCh38 |
| NC_000011.9:g.128761334_128761345del , CM000673.1:g.128761334_128761345del | GRCh37 |
| NC_000011.8:g.128266544_128266555del | NCBI36 |
| NG_023406.2:g.5022_5033del , LRG_333:g.5022_5033del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-293_-282del MANE Select | ENSP00000433295.1:n.-293_-282del | |
| ENST00000529694.5:c.-293_-282del | ENSP00000433295.1:n.-293_-282del | |
| NM_000890.3:c.-293_-282del , LRG_333t1:c.-293_-282del | NP_000881.3:n.-293_-282del | |
| NM_000890.4:c.-293_-282del | NP_000881.3:n.-293_-282del | |
| NM_001354169.1:c.-382_-371del | NP_001341098.1:n.-382_-371del | |
| NM_000890.5:c.-293_-282del MANE Select | NP_000881.3:n.-293_-282del | |
| NM_001354169.2:c.-382_-371del | NP_001341098.1:n.-382_-371del |