Linked Data
ClinVar Variation Id:
304726
ClinVar RCV Id:
RCV000319479
dbSNP Id:
rs886048308
gnomAD v3:
11-45805249-A-AAGCCCCG
gnomAD v4:
11-45805249-A-AAGCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805256_45805262dup , CM000673.2:g.45805256_45805262dup | GRCh38 |
| NC_000011.9:g.45826807_45826813dup , CM000673.1:g.45826807_45826813dup | GRCh37 |
| NC_000011.8:g.45783383_45783389dup | NCBI36 |
| NG_009875.1:g.6185_6191dup , LRG_107:g.6185_6191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-31-554_-31-548dup | ENSP00000432145.2:n.-31-554_-31-548dup | |
| ENST00000314134.4:c.-546_-540dup MANE Select | ENSP00000313318.3:n.-546_-540dup | |
| ENST00000314134.3:c.-546_-540dup | ENSP00000313318.3:n.-546_-540dup | |
| ENST00000442528.2:c.-31-554_-31-548dup | ENSP00000412408.2:n.-31-554_-31-548dup | |
| ENST00000526817.1:c.-31-554_-31-548dup | ENSP00000432145.1:n.-31-554_-31-548dup | |
| ENST00000530471.1:c.-92_-86dup | ENSP00000432669.1:n.-92_-86dup | |
| NM_001145265.1:c.-31-554_-31-548dup | NP_001138737.1:n.-31-554_-31-548dup | |
| NM_001145266.1:c.-31-554_-31-548dup | NP_001138738.1:n.-31-554_-31-548dup | |
| NM_018389.4:c.-546_-540dup , LRG_107t1:c.-546_-540dup | NP_060859.4:n.-546_-540dup | |
| XM_011520203.1:c.-546_-540dup | XP_011518505.1:n.-546_-540dup | |
| XM_011520203.3:c.-546_-540dup | XP_011518505.1:n.-546_-540dup | |
| NM_001145265.2:c.-31-554_-31-548dup | NP_001138737.1:n.-31-554_-31-548dup | |
| NM_018389.5:c.-546_-540dup MANE Select | NP_060859.4:n.-546_-540dup |