Linked Data
dbSNP Id:
rs75983926
gnomAD v3:
19-52360689-G-GTTTT
gnomAD v4:
19-52360689-G-GTTTT
MyVariant Identifiers:
chr19:g.52863942_52863943insTTTT (hg19)
chr19:g.52360689_52360690insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52360691_52360694dup , CM000681.2:g.52360691_52360694dup | GRCh38 |
| NC_000019.9:g.52863944_52863947dup , CM000681.1:g.52863944_52863947dup | GRCh37 |
| NC_000019.8:g.57555756_57555759dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403906.8:c.320-5007_320-5004dup MANE Select | ENSP00000383922.2:n.320-5007_320-5004dup | |
| ENST00000321287.12:c.320-5007_320-5004dup | ENSP00000324441.8:n.320-5007_320-5004dup | |
| ENST00000327920.12:c.320-5007_320-5004dup | ENSP00000327597.7:n.320-5007_320-5004dup | |
| ENST00000403906.7:c.320-5007_320-5004dup | ENSP00000383922.2:n.320-5007_320-5004dup | |
| ENST00000601151.5:c.191-5007_191-5004dup | ENSP00000471021.1:n.191-5007_191-5004dup | |
| ENST00000613461.3:c.191-5007_191-5004dup | ENSP00000477617.1:n.191-5007_191-5004dup | |
| ENST00000616431.2:c.320-5007_320-5004dup | ENSP00000485001.1:n.320-5007_320-5004dup | |
| NM_001161425.1:c.320-5007_320-5004dup | NP_001154897.1:n.320-5007_320-5004dup | |
| NM_001161426.1:c.320-5007_320-5004dup | NP_001154898.1:n.320-5007_320-5004dup | |
| NM_001161427.1:c.191-5007_191-5004dup | NP_001154899.1:n.191-5007_191-5004dup | |
| NM_173530.2:c.320-5007_320-5004dup | NP_775801.2:n.320-5007_320-5004dup | |
| XM_011526560.1:c.320-5007_320-5004dup | XP_011524862.1:n.320-5007_320-5004dup | |
| XM_011526561.1:c.320-5007_320-5004dup | XP_011524863.1:n.320-5007_320-5004dup | |
| XM_011526562.1:c.320-5007_320-5004dup | XP_011524864.1:n.320-5007_320-5004dup | |
| NM_001161425.2:c.320-5007_320-5004dup MANE Select | NP_001154897.1:n.320-5007_320-5004dup | |
| NM_001161426.2:c.320-5007_320-5004dup | NP_001154898.1:n.320-5007_320-5004dup | |
| NM_001161427.2:c.191-5007_191-5004dup | NP_001154899.1:n.191-5007_191-5004dup | |
| NM_173530.3:c.320-5007_320-5004dup | NP_775801.2:n.320-5007_320-5004dup |