Linked Data
dbSNP Id:
rs1846010415
gnomAD v3:
11-2444960-AGCGCCCGG-A
gnomAD v4:
11-2444960-AGCGCCCGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444963_2444970del , CM000673.2:g.2444963_2444970del | GRCh38 |
| NC_000011.9:g.2466193_2466200del , CM000673.1:g.2466193_2466200del | GRCh37 |
| NC_000011.8:g.2422769_2422776del | NCBI36 |
| NG_008935.1:g.4973_4980del , LRG_287:g.4973_4980del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+255_23+262del | ENSP00000434560.2:n.23+255_23+262del | |
| ENST00000496887.6:c.23+255_23+262del | ENSP00000434560.1:n.23+255_23+262del |