Linked Data
dbSNP Id:
rs1439076856
gnomAD v2:
11-128761371-ATT-A
gnomAD v3:
11-128891476-ATT-A
gnomAD v4:
11-128891476-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891477_128891478del , CM000673.2:g.128891477_128891478del | GRCh38 |
| NC_000011.9:g.128761372_128761373del , CM000673.1:g.128761372_128761373del | GRCh37 |
| NC_000011.8:g.128266582_128266583del | NCBI36 |
| NG_023406.2:g.5060_5061del , LRG_333:g.5060_5061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-255_-254del MANE Select | ENSP00000433295.1:n.-255_-254del | |
| ENST00000338350.4:c.-344_-343del | ENSP00000339960.4:n.-344_-343del | |
| ENST00000529694.5:c.-255_-254del | ENSP00000433295.1:n.-255_-254del | |
| NM_000890.3:c.-255_-254del , LRG_333t1:c.-255_-254del | NP_000881.3:n.-255_-254del | |
| NM_000890.4:c.-255_-254del | NP_000881.3:n.-255_-254del | |
| NM_001354169.1:c.-344_-343del | NP_001341098.1:n.-344_-343del | |
| NM_000890.5:c.-255_-254del MANE Select | NP_000881.3:n.-255_-254del | |
| NM_001354169.2:c.-344_-343del | NP_001341098.1:n.-344_-343del |