Linked Data
ClinVar Variation Id:
2704815
ClinVar RCV Id:
RCV003505843
dbSNP Id:
rs2022627426
gnomAD v3:
19-7529726-CT-C
gnomAD v4:
19-7529726-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529727del , CM000681.2:g.7529727del | GRCh38 |
| NC_000019.9:g.7594613del , CM000681.1:g.7594613del | GRCh37 |
| NC_000019.8:g.7500613del | NCBI36 |
| NG_013374.1:g.576del | |
| NG_015806.1:g.12118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1359+15del MANE Select | ENSP00000264079.5:n.1359+15del | |
| ENST00000264079.10:c.1359+15del | ENSP00000264079.5:n.1359+15del | |
| ENST00000394321.9:n.1674+15del | ||
| ENST00000594692.1:n.355+15del | ||
| ENST00000595860.5:n.542+15del | ||
| ENST00000599334.1:c.236+15del | ||
| NM_020533.2:c.1359+15del | NP_065394.1:n.1359+15del | |
| NM_020533.3:c.1359+15del MANE Select | NP_065394.1:n.1359+15del |