Linked Data
dbSNP Id:
rs1814140874
gnomAD v3:
8-127343307-AAAAAAAAAG-A
gnomAD v4:
8-127343307-AAAAAAAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343309_127343317del , CM000670.2:g.127343309_127343317del | GRCh38 |
| NC_000008.10:g.128355555_128355563del , CM000670.1:g.128355555_128355563del | GRCh37 |
| NC_000008.9:g.128424737_128424745del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3874_-560+3882del (POU5F1B) | ENSP00000495779.1:n.-560+3874_-560+3882del | |
| NR_117099.1:n.457+3874_457+3882del (CASC21) | ||
| NR_117100.1:n.1177-53256_1177-53248del (CASC8) |