Linked Data
ClinVar Variation Id:
2760535
ClinVar RCV Id:
RCV003587874
dbSNP Id:
rs1247454080
gnomAD v2:
2-73114818-TC-T
gnomAD v4:
2-72887689-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887694del , CM000664.2:g.72887694del | GRCh38 |
| NC_000002.11:g.73114823del , CM000664.1:g.73114823del | GRCh37 |
| NC_000002.10:g.72968331del | NCBI36 |
| NG_008234.1:g.5312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.262del MANE Select | ENSP00000234454.5:p.Arg88GlyfsTer27 | |
| ENST00000234454.5:c.262del | ENSP00000234454.5:p.Arg88GlyfsTer27 | |
| ENST00000498749.1:n.313del | ||
| NM_003124.4:c.262del | NP_003115.1:p.Arg88GlyfsTer27 | |
| NM_003124.5:c.262del MANE Select | NP_003115.1:p.Arg88GlyfsTer27 |