Linked Data
ClinVar Variation Id:
347688
ClinVar RCV Id:
RCV000382567
dbSNP Id:
rs140789678
gnomAD v2:
4-149000950-C-CTCTA
gnomAD v3:
4-148079799-C-CTCTA
gnomAD v4:
4-148079799-C-CTCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148079803_148079806dup , CM000666.2:g.148079803_148079806dup | GRCh38 |
| NC_000004.11:g.149000954_149000957dup , CM000666.1:g.149000954_149000957dup | GRCh37 |
| NC_000004.10:g.149220404_149220407dup | NCBI36 |
| NG_013350.1:g.367719_367722dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.*1541_*1544dup MANE Select | ENSP00000350815.3:n.*1541_*1544dup | |
| ENST00000344721.8:c.*1541_*1544dup | ENSP00000341390.4:n.*1541_*1544dup | |
| ENST00000358102.7:c.*1541_*1544dup | ENSP00000350815.3:n.*1541_*1544dup | |
| ENST00000625323.2:c.*1541_*1544dup | ENSP00000486719.1:n.*1541_*1544dup | |
| NM_000901.4:c.*1541_*1544dup | NP_000892.2:n.*1541_*1544dup | |
| NM_001166104.1:c.*1541_*1544dup | NP_001159576.1:n.*1541_*1544dup | |
| XM_011531975.1:c.*1541_*1544dup | XP_011530277.1:n.*1541_*1544dup | |
| XM_011531976.1:c.*1541_*1544dup | XP_011530278.1:n.*1541_*1544dup | |
| XM_011531977.1:c.*1541_*1544dup | XP_011530279.1:n.*1541_*1544dup | |
| NM_001354819.1:c.*1541_*1544dup | NP_001341748.1:n.*1541_*1544dup | |
| NR_148974.1:n.4363_4366dup | ||
| NM_000901.5:c.*1541_*1544dup MANE Select | NP_000892.2:n.*1541_*1544dup | |
| NM_001166104.2:c.*1541_*1544dup | NP_001159576.1:n.*1541_*1544dup | |
| NR_148974.2:n.4257_4260dup |