Linked Data
ClinVar Variation Id:
1271009
ClinVar RCV Id:
RCV001680530
dbSNP Id:
rs377485634
gnomAD v2:
22-28146769-GA-G
gnomAD v3:
22-27750781-GA-G
gnomAD v4:
22-27750781-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750793del , CM000684.2:g.27750793del | GRCh38 |
| NC_000022.10:g.28146781del , CM000684.1:g.28146781del | GRCh37 |
| NC_000022.9:g.26476781del | NCBI36 |
| NG_023258.1:g.55717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.621del | ||
| ENST00000302326.5:c.*133del MANE Select | ENSP00000304956.4:n.*133del | |
| ENST00000302326.4:c.*133del | ENSP00000304956.4:n.*133del | |
| ENST00000424656.1:c.449del | ||
| ENST00000497225.1:n.452del | ||
| NM_002430.2:c.*133del | NP_002421.3:n.*133del | |
| NM_002430.3:c.*133del MANE Select | NP_002421.3:n.*133del |