Linked Data
ClinVar Variation Id:
6271
ClinVar RCV Id:
RCV000006649
dbSNP Id:
rs121908662
PubMed:
PMID:11719191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68409973dup , CM000673.2:g.68409973dup | GRCh38 |
| NC_000011.9:g.68177441dup , CM000673.1:g.68177441dup | GRCh37 |
| NC_000011.8:g.67934017dup | NCBI36 |
| NG_015835.1:g.102334dup | |
| NG_015835.2:g.102334dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.2151dup MANE Select | ENSP00000294304.6:p.Asp718Ter | |
| ENST00000294304.11:c.2151dup | ENSP00000294304.6:p.Asp718Ter | |
| ENST00000529993.5:c.*757dup | ENSP00000436652.1:n.*757dup | |
| NM_001291902.1:c.408dup | NP_001278831.1:p.Asp137Ter | |
| NM_002335.3:c.2151dup | NP_002326.2:p.Asp718Ter | |
| XM_005273994.2:c.2151dup | XP_005274051.1:p.Asp718Ter | |
| XM_011545029.1:c.2178dup | XP_011543331.1:p.Asp727Ter | |
| XM_011545030.1:c.2178dup | XP_011543332.1:p.Asp727Ter | |
| XM_011545031.1:c.2178dup | XP_011543333.1:p.Asp727Ter | |
| XR_949925.1:n.2193dup | ||
| XR_949926.1:n.2193dup | ||
| XM_017017735.1:c.408dup | XP_016873224.1:p.Asp137Ter | |
| XR_001747874.1:n.2193dup | ||
| XR_949925.2:n.2193dup | ||
| XR_949926.2:n.2193dup | ||
| NM_002335.4:c.2151dup MANE Select | NP_002326.2:p.Asp718Ter | |
| NM_001291902.2:c.408dup | NP_001278831.1:p.Asp137Ter |