Linked Data
ClinVar Variation Id:
503838
ClinVar RCV Id:
RCV000599370
dbSNP Id:
rs1554261667
gnomAD v3:
7-5287928-G-GAGGCGGCTC
gnomAD v4:
7-5287928-G-GAGGCGGCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5287932_5287940dup , CM000669.2:g.5287932_5287940dup | GRCh38 |
| NC_000007.13:g.5327563_5327571dup , CM000669.1:g.5327563_5327571dup | GRCh37 |
| NC_000007.12:g.5294089_5294097dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396872.8:c.116_124dup MANE Select | ENSP00000380081.2:p.Gln41_Gly42insAlaAlaGln | |
| ENST00000297195.8:c.116_124dup | ENSP00000297195.4:p.Gln41_Gly42insAlaAlaGln | |
| ENST00000396872.7:c.116_124dup | ENSP00000380081.2:p.Gln41_Gly42insAlaAlaGln | |
| ENST00000406453.3:c.116_124dup | ENSP00000385845.3:p.Gln41_Gly42insAlaAlaGln | |
| ENST00000434816.5:c.116_124dup | ENSP00000406803.1:p.Gln41_Gly42insAlaAlaGln | |
| ENST00000444741.5:c.116_124dup | ENSP00000413271.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_001040661.1:c.116_124dup | NP_001035751.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_001300847.1:c.116_124dup | NP_001287776.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_153247.2:c.116_124dup | NP_694979.2:p.Gln41_Gly42insAlaAlaGln | |
| XM_005249658.3:c.116_124dup | XP_005249715.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_006715667.2:c.116_124dup | XP_006715730.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_006715668.2:c.-424_-416dup | XP_006715731.1:n.-424_-416dup | |
| XM_011515200.1:c.116_124dup | XP_011513502.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_011515201.1:c.116_124dup | XP_011513503.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_005249658.4:c.116_124dup | XP_005249715.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_006715667.3:c.116_124dup | XP_006715730.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_011515200.2:c.116_124dup | XP_011513502.1:p.Gln41_Gly42insAlaAlaGln | |
| XM_011515201.2:c.116_124dup | XP_011513503.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_001040661.2:c.116_124dup | NP_001035751.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_001300847.2:c.116_124dup | NP_001287776.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_153247.3:c.116_124dup | NP_694979.2:p.Gln41_Gly42insAlaAlaGln | |
| NM_001040661.3:c.116_124dup | NP_001035751.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_001300847.3:c.116_124dup | NP_001287776.1:p.Gln41_Gly42insAlaAlaGln | |
| NM_153247.4:c.116_124dup MANE Select | NP_694979.2:p.Gln41_Gly42insAlaAlaGln |