Linked Data
dbSNP Id:
rs34453641
gnomAD v2:
13-21050493-C-CAA
gnomAD v3:
13-20476354-C-CAA
gnomAD v4:
13-20476354-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20476370_20476371dup , CM000675.2:g.20476370_20476371dup | GRCh38 |
| NC_000013.10:g.21050509_21050510dup , CM000675.1:g.21050509_21050510dup | GRCh37 |
| NC_000013.9:g.19948509_19948510dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298248.12:c.276+13014_276+13015dup MANE Select | ENSP00000298248.7:n.276+13014_276+13015dup | |
| ENST00000643035.1:c.*77+515_*77+516dup | ENSP00000496154.1:n.*77+515_*77+516dup | |
| ENST00000643750.1:c.210+13014_210+13015dup | ENSP00000493818.1:n.210+13014_210+13015dup | |
| ENST00000643887.1:c.276+13014_276+13015dup | ENSP00000495342.1:n.276+13014_276+13015dup | |
| ENST00000644153.1:c.277-3282_277-3281dup | ENSP00000494794.1:n.277-3282_277-3281dup | |
| ENST00000644167.1:c.276+13014_276+13015dup | ENSP00000494114.1:n.276+13014_276+13015dup | |
| ENST00000644593.1:c.276+13014_276+13015dup | ENSP00000493784.1:n.276+13014_276+13015dup | |
| ENST00000644872.1:n.233+13014_233+13015dup | ||
| ENST00000298248.11:c.276+13014_276+13015dup | ENSP00000298248.7:n.276+13014_276+13015dup | |
| ENST00000382812.5:c.210+13014_210+13015dup | ENSP00000372262.1:n.210+13014_210+13015dup | |
| ENST00000480748.2:c.67+13014_67+13015dup | ||
| NM_015974.2:c.276+13014_276+13015dup | NP_057058.2:n.276+13014_276+13015dup | |
| XM_005266415.2:c.276+13014_276+13015dup | XP_005266472.1:n.276+13014_276+13015dup | |
| XM_005266416.3:c.276+13014_276+13015dup | XP_005266473.1:n.276+13014_276+13015dup | |
| XM_011535100.1:c.276+13014_276+13015dup | XP_011533402.1:n.276+13014_276+13015dup | |
| XM_011535101.1:c.276+13014_276+13015dup | XP_011533403.1:n.276+13014_276+13015dup | |
| NM_001363647.1:c.276+13014_276+13015dup | NP_001350576.1:n.276+13014_276+13015dup | |
| XM_005266416.5:c.276+13014_276+13015dup | XP_005266473.1:n.276+13014_276+13015dup | |
| XM_017020624.1:c.-88-3282_-88-3281dup | XP_016876113.1:n.-88-3282_-88-3281dup | |
| NM_015974.3:c.276+13014_276+13015dup MANE Select | NP_057058.2:n.276+13014_276+13015dup | |
| NM_001363647.2:c.276+13014_276+13015dup | NP_001350576.1:n.276+13014_276+13015dup |