Linked Data
dbSNP Id:
rs1424590257
gnomAD v2:
10-96701812-TG-T
gnomAD v3:
10-94942055-TG-T
gnomAD v4:
10-94942055-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942059del , CM000672.2:g.94942059del | GRCh38 |
| NC_000010.10:g.96701816del , CM000672.1:g.96701816del | GRCh37 |
| NC_000010.9:g.96691806del | NCBI36 |
| NG_008385.1:g.8402del | |
| NG_008385.2:g.8902del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.331+39del MANE Select | ENSP00000260682.6:n.331+39del | |
| ENST00000643112.1:c.331+39del | ENSP00000496202.1:n.331+39del | |
| ENST00000645207.1:n.484+39del | ||
| ENST00000260682.6:c.331+39del | ENSP00000260682.6:n.331+39del | |
| ENST00000461906.1:n.356+39del | ||
| ENST00000473496.1:n.102+39del | ||
| NM_000771.3:c.331+39del | NP_000762.2:n.331+39del | |
| NM_000771.4:c.331+39del MANE Select | NP_000762.2:n.331+39del |