Linked Data
ClinVar Variation Id:
439123
dbSNP Id:
rs1270810159
gnomAD v2:
16-222979-GC-G
gnomAD v3:
16-172980-GC-G
gnomAD v4:
16-172980-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172981del , CM000678.2:g.172981del | GRCh38 |
| NC_000016.9:g.222980del , CM000678.1:g.222980del | GRCh37 |
| NC_000016.8:g.162980del | NCBI36 |
| NG_000006.1:g.33844del | |
| NG_059186.1:g.1331del | |
| NG_059271.1:g.5135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.69del MANE Select | ENSP00000251595.6:p.Glu24SerfsTer26 | |
| ENST00000251595.10:c.69del | ENSP00000251595.6:p.Glu24SerfsTer26 | |
| ENST00000397806.1:c.-2+23del | ENSP00000380908.1:n.-2+23del | |
| ENST00000482565.1:n.88del | ||
| ENST00000484216.1:n.38del | ||
| NM_000517.4:c.69del | NP_000508.1:p.Glu24SerfsTer26 | |
| NM_000517.6:c.69del MANE Select | NP_000508.1:p.Glu24SerfsTer26 |