Linked Data
dbSNP Id:
rs1558348753
gnomAD v2:
1-179533539-C-CGA
gnomAD v3:
1-179564404-C-CGA
gnomAD v4:
1-179564404-C-CGA
MyVariant Identifiers:
chr1:g.179533539_179533540insGA (hg19)
chr1:g.179564404_179564405insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564407_179564408dup , CM000663.2:g.179564407_179564408dup | GRCh38 |
| NC_000001.10:g.179533542_179533543dup , CM000663.1:g.179533542_179533543dup | GRCh37 |
| NC_000001.9:g.177800165_177800166dup | NCBI36 |
| NG_007535.1:g.16544_16545dup , LRG_887:g.16544_16545dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.378+284_378+285dup MANE Select | ENSP00000356587.4:n.378+284_378+285dup | |
| ENST00000367615.8:c.378+284_378+285dup | ENSP00000356587.4:n.378+284_378+285dup | |
| ENST00000367616.4:c.378+284_378+285dup | ENSP00000356588.4:n.378+284_378+285dup | |
| NM_001297575.1:c.378+284_378+285dup | NP_001284504.1:n.378+284_378+285dup | |
| NM_014625.3:c.378+284_378+285dup , LRG_887t1:c.378+284_378+285dup | NP_055440.1:n.378+284_378+285dup | |
| XM_005245483.2:c.275-4645_275-4644dup | XP_005245540.1:n.275-4645_275-4644dup | |
| XM_006711529.2:c.378+284_378+285dup | XP_006711592.1:n.378+284_378+285dup | |
| XM_005245483.3:c.275-4645_275-4644dup | XP_005245540.1:n.275-4645_275-4644dup | |
| XM_017002298.1:c.378+284_378+285dup | XP_016857787.1:n.378+284_378+285dup | |
| XM_017002299.1:c.378+284_378+285dup | XP_016857788.1:n.378+284_378+285dup | |
| NM_001297575.2:c.378+284_378+285dup | NP_001284504.1:n.378+284_378+285dup | |
| NM_014625.4:c.378+284_378+285dup MANE Select | NP_055440.1:n.378+284_378+285dup |