Linked Data
dbSNP Id:
rs1191386977
gnomAD v2:
5-1213694-TC-T
gnomAD v4:
5-1213579-TC-T
COSMIC:
COSM5547968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213583del , CM000667.2:g.1213583del | GRCh38 |
| NC_000005.9:g.1213698del , CM000667.1:g.1213698del | GRCh37 |
| NC_000005.8:g.1266698del | NCBI36 |
| NG_008282.1:g.16989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774+10del MANE Select | ENSP00000305302.10:n.774+10del | |
| ENST00000304460.10:c.774+10del | ENSP00000305302.10:n.774+10del | |
| ENST00000515652.5:c.682+10del | ENSP00000425701.1:n.682+10del | |
| NM_001003841.2:c.774+10del | NP_001003841.1:n.774+10del | |
| NM_001003841.3:c.774+10del MANE Select | NP_001003841.1:n.774+10del |