Linked Data
dbSNP Id:
rs71057905
gnomAD v3:
11-128891441-C-CAGAGAGAGAGAGAGAG
gnomAD v4:
11-128891441-C-CAGAGAGAGAGAGAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891461_128891476dup , CM000673.2:g.128891461_128891476dup | GRCh38 |
| NC_000011.9:g.128761356_128761371dup , CM000673.1:g.128761356_128761371dup | GRCh37 |
| NC_000011.8:g.128266566_128266581dup | NCBI36 |
| NG_023406.2:g.5044_5059dup , LRG_333:g.5044_5059dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-271_-256dup MANE Select | ENSP00000433295.1:n.-271_-256dup | |
| ENST00000529694.5:c.-271_-256dup | ENSP00000433295.1:n.-271_-256dup | |
| NM_000890.3:c.-271_-256dup , LRG_333t1:c.-271_-256dup | NP_000881.3:n.-271_-256dup | |
| NM_000890.4:c.-271_-256dup | NP_000881.3:n.-271_-256dup | |
| NM_001354169.1:c.-360_-345dup | NP_001341098.1:n.-360_-345dup | |
| NM_000890.5:c.-271_-256dup MANE Select | NP_000881.3:n.-271_-256dup | |
| NM_001354169.2:c.-360_-345dup | NP_001341098.1:n.-360_-345dup |