Linked Data
dbSNP Id:
rs1483629295
gnomAD v3:
13-28659300-G-GGGCTGAGGCCGGCCTCA
gnomAD v4:
13-28659300-G-GGGCTGAGGCCGGCCTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659304_28659320dup , CM000675.2:g.28659304_28659320dup | GRCh38 |
| NC_000013.10:g.29233441_29233457dup , CM000675.1:g.29233441_29233457dup | GRCh37 |
| NC_000013.9:g.28131441_28131457dup | NCBI36 |
| NG_027550.1:g.5301_5317dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697661.1:c.-246+117_-246+133dup | ENSP00000513386.1:n.-246+117_-246+133dup | |
| ENST00000697662.1:c.-282+117_-282+133dup | ENSP00000513387.1:n.-282+117_-282+133dup | |
| ENST00000697716.1:c.-83+117_-83+133dup | ENSP00000513414.1:n.-83+117_-83+133dup | |
| ENST00000697717.1:c.3+117_3+133dup | ENSP00000513415.1:n.3+117_3+133dup | |
| ENST00000697718.1:c.3+117_3+133dup | ENSP00000513416.1:n.3+117_3+133dup | |
| ENST00000380842.5:c.3+117_3+133dup MANE Select | ENSP00000370222.4:n.3+117_3+133dup | |
| ENST00000380842.4:c.3+117_3+133dup | ENSP00000370222.4:n.3+117_3+133dup | |
| ENST00000460403.1:n.84+117_84+133dup | ||
| NM_015932.5:c.3+117_3+133dup | NP_057016.1:n.3+117_3+133dup | |
| XR_941802.1:n.110_126dup | ||
| NM_015932.6:c.3+117_3+133dup MANE Select | NP_057016.1:n.3+117_3+133dup |