Linked Data
dbSNP Id:
rs1565435568
gnomAD v2:
10-124268328-GC-G
gnomAD v4:
10-122508812-GC-G
MyVariant Identifiers:
chr10:g.124268329del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508814del , CM000672.2:g.122508814del | GRCh38 |
| NC_000010.10:g.124268330del , CM000672.1:g.124268330del | GRCh37 |
| NC_000010.9:g.124258320del | NCBI36 |
| NG_011554.1:g.52290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1120+44del MANE Select | ENSP00000357980.3:n.1120+44del | |
| ENST00000648167.1:c.802+44del | ENSP00000498033.1:n.802+44del | |
| ENST00000368984.7:c.1120+44del | ENSP00000357980.3:n.1120+44del | |
| ENST00000420892.1:c.343+44del | ENSP00000412676.1:n.343+44del | |
| NM_002775.4:c.1120+44del | NP_002766.1:n.1120+44del | |
| NM_002775.5:c.1120+44del MANE Select | NP_002766.1:n.1120+44del |