Linked Data
ClinVar Variation Id:
208029
ClinVar RCV Id:
RCV000193040
dbSNP Id:
rs797044823
gnomAD v3:
19-7530370-G-GCGCAGCAGGGC
gnomAD v4:
19-7530370-G-GCGCAGCAGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530379_7530389dup , CM000681.2:g.7530379_7530389dup | GRCh38 |
| NC_000019.9:g.7595265_7595275dup , CM000681.1:g.7595265_7595275dup | GRCh37 |
| NC_000019.8:g.7501265_7501275dup | NCBI36 |
| NG_013374.1:g.1228_1238dup | |
| NG_015806.1:g.12770_12780dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1453_1463dup MANE Select | ENSP00000264079.5:p.Ser488ArgfsTer? | |
| ENST00000264079.10:c.1453_1463dup | ENSP00000264079.5:p.Ser488ArgfsTer? | |
| ENST00000394321.9:n.1768_1778dup | ||
| ENST00000594692.1:n.449_459dup | ||
| ENST00000595860.5:n.636_646dup | ||
| ENST00000599334.1:c.237-56_237-46dup | ||
| NM_020533.2:c.1453_1463dup | NP_065394.1:p.Ser488ArgfsTer? | |
| NM_020533.3:c.1453_1463dup MANE Select | NP_065394.1:p.Ser488ArgfsTer? |