Linked Data
dbSNP Id:
rs113761140
gnomAD v3:
11-128891397-G-GAC
gnomAD v4:
11-128891397-G-GAC
MyVariant Identifiers:
chr11:g.128761292_128761293insAC (hg19)
chr11:g.128891397_128891398insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891441_128891442dup , CM000673.2:g.128891441_128891442dup | GRCh38 |
| NC_000011.9:g.128761336_128761337dup , CM000673.1:g.128761336_128761337dup | GRCh37 |
| NC_000011.8:g.128266546_128266547dup | NCBI36 |
| NG_023406.2:g.5024_5025dup , LRG_333:g.5024_5025dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-291_-290dup MANE Select | ENSP00000433295.1:n.-291_-290dup | |
| ENST00000529694.5:c.-291_-290dup | ENSP00000433295.1:n.-291_-290dup | |
| NM_000890.4:c.-291_-290dup | NP_000881.3:n.-291_-290dup | |
| NM_001354169.1:c.-380_-379dup | NP_001341098.1:n.-380_-379dup | |
| NM_000890.5:c.-291_-290dup MANE Select | NP_000881.3:n.-291_-290dup | |
| NM_001354169.2:c.-380_-379dup | NP_001341098.1:n.-380_-379dup |