Linked Data
dbSNP Id:
rs1945765956
gnomAD v3:
12-6471119-CCCTCGCTCCGCA-C
gnomAD v4:
12-6471119-CCCTCGCTCCGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471122_6471133del , CM000674.2:g.6471122_6471133del | GRCh38 |
| NC_000012.11:g.6580288_6580299del , CM000674.1:g.6580288_6580299del | GRCh37 |
| NC_000012.10:g.6450549_6450560del | NCBI36 |
| NG_042188.1:g.4769_4780del | |
| NG_042188.2:g.4769_4780del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2389_2400del | ||
| XR_001748778.2:n.2386_2397del |