Linked Data
ClinVar Variation Id:
371353
ClinVar RCV Id:
RCV000412344
dbSNP Id:
rs1057517205
gnomAD v4:
4-52038251-TGCCGCCATCTTCCCGCGCCCGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038258_52038280del , CM000666.2:g.52038258_52038280del | GRCh38 |
| NC_000004.11:g.52904424_52904446del , CM000666.1:g.52904424_52904446del | GRCh37 |
| NC_000004.10:g.52599181_52599203del | NCBI36 |
| NG_008891.1:g.5046_5068del , LRG_204:g.5046_5068del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.-15_8del | ||
| ENST00000381431.9:c.-15_8del | ||
| NM_000232.4:c.-15_8del , LRG_204t1:c.-15_8del | ||
| XM_011534403.1:c.-15_8del | ||
| NM_000232.5:c.-15_8del |