Linked Data
ClinVar Variation Id:
191304
ClinVar RCV Id:
RCV000171496
dbSNP Id:
rs786205634
gnomAD v4:
2-85663647-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663648del , CM000664.2:g.85663648del | GRCh38 |
| NC_000002.11:g.85890771del , CM000664.1:g.85890771del | GRCh37 |
| NC_000002.10:g.85744282del | NCBI36 |
| NG_016967.1:g.10094del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409383.6:c.856+16del | ENSP00000386346.2:n.856+16del | |
| ENST00000519937.7:c.856+16del MANE Select | ENSP00000428719.2:n.856+16del | |
| ENST00000393822.7:c.856+16del | ENSP00000377409.4:n.856+16del | |
| ENST00000409383.5:c.892+16del | ENSP00000386346.1:n.892+16del | |
| ENST00000428225.5:c.845+16del | ||
| ENST00000519937.6:c.856+16del | ENSP00000428719.2:n.856+16del | |
| NM_000542.3:c.892+16del | NP_000533.3:n.892+16del | |
| NM_198843.2:c.892+16del | NP_942140.2:n.892+16del | |
| XM_005264487.2:c.892+16del | XP_005264544.1:n.892+16del | |
| XM_005264488.2:c.856+16del | XP_005264545.2:n.856+16del | |
| XM_005264490.3:c.856+16del | XP_005264547.2:n.856+16del | |
| XM_005264488.4:c.856+16del | XP_005264545.2:n.856+16del | |
| XM_005264490.4:c.856+16del | XP_005264547.2:n.856+16del | |
| NM_000542.4:c.856+16del | NP_000533.4:n.856+16del | |
| NM_001367281.1:c.856+16del | NP_001354210.1:n.856+16del | |
| NM_198843.3:c.856+16del | NP_942140.3:n.856+16del | |
| NM_000542.5:c.856+16del MANE Select | NP_000533.4:n.856+16del |