Linked Data
dbSNP Id:
rs1393783456
gnomAD v3:
10-119210271-C-CA
gnomAD v4:
10-119210271-C-CA
MyVariant Identifiers:
chr10:g.120969783_120969784insA (hg19)
chr10:g.119210271_119210272insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119210272dup , CM000672.2:g.119210272dup | GRCh38 |
| NC_000010.10:g.120969784dup , CM000672.1:g.120969784dup | GRCh37 |
| NC_000010.9:g.120959774dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392870.3:c.52+2303dup (GRK5) MANE Select | ENSP00000376609.2:n.52+2303dup | |
| ENST00000392870.2:c.52+2303dup (GRK5) | ENSP00000376609.2:n.52+2303dup | |
| NM_005308.2:c.52+2303dup (GRK5) | NP_005299.1:n.52+2303dup | |
| XM_005269707.1:c.52+2303dup (GRK5) | XP_005269764.1:n.52+2303dup | |
| XM_005269708.1:c.52+2303dup (GRK5) | XP_005269765.1:n.52+2303dup | |
| XR_246196.2:n.583-1209dup (GRK5-IT1) | ||
| XM_005269707.2:c.52+2303dup (GRK5) | XP_005269764.1:n.52+2303dup | |
| XR_246196.4:n.669-1209dup (GRK5-IT1) | ||
| NM_005308.3:c.52+2303dup (GRK5) MANE Select | NP_005299.1:n.52+2303dup |