Linked Data
dbSNP Id:
rs1783923425
gnomAD v3:
7-22720087-CAAGATGAGAA-C
gnomAD v4:
7-22720087-CAAGATGAGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22720095_22720104del , CM000669.2:g.22720095_22720104del | GRCh38 |
| NC_000007.13:g.22759714_22759723del , CM000669.1:g.22759714_22759723del | GRCh37 |
| NC_000007.12:g.22726239_22726248del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+7471_46+7480del |