Linked Data
dbSNP Id:
rs1944079816
gnomAD v3:
11-128891423-CACACA-C
gnomAD v4:
11-128891423-CACACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891424_128891428del , CM000673.2:g.128891424_128891428del | GRCh38 |
| NC_000011.9:g.128761319_128761323del , CM000673.1:g.128761319_128761323del | GRCh37 |
| NC_000011.8:g.128266529_128266533del | NCBI36 |
| NG_023406.2:g.5007_5011del , LRG_333:g.5007_5011del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-308_-304del MANE Select | ENSP00000433295.1:n.-308_-304del | |
| ENST00000529694.5:c.-308_-304del | ENSP00000433295.1:n.-308_-304del | |
| NM_000890.3:c.-308_-304del , LRG_333t1:c.-308_-304del | NP_000881.3:n.-308_-304del | |
| NM_000890.4:c.-308_-304del | NP_000881.3:n.-308_-304del | |
| NM_001354169.1:c.-397_-393del | NP_001341098.1:n.-397_-393del | |
| NM_000890.5:c.-308_-304del MANE Select | NP_000881.3:n.-308_-304del | |
| NM_001354169.2:c.-397_-393del | NP_001341098.1:n.-397_-393del |