Linked Data
dbSNP Id:
rs1944077681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891390_128891396dup , CM000673.2:g.128891390_128891396dup | GRCh38 |
| NC_000011.9:g.128761285_128761291dup , CM000673.1:g.128761285_128761291dup | GRCh37 |
| NC_000011.8:g.128266495_128266501dup | NCBI36 |
| NG_023406.2:g.4973_4979dup , LRG_333:g.4973_4979dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-342_-336dup MANE Select | ENSP00000433295.1:n.-342_-336dup | |
| ENST00000529694.5:c.-342_-336dup | ENSP00000433295.1:n.-342_-336dup | |
| NM_000890.4:c.-342_-336dup | NP_000881.3:n.-342_-336dup | |
| NM_001354169.1:c.-431_-425dup | NP_001341098.1:n.-431_-425dup | |
| NM_000890.5:c.-342_-336dup MANE Select | NP_000881.3:n.-342_-336dup | |
| NM_001354169.2:c.-431_-425dup | NP_001341098.1:n.-431_-425dup |