Linked Data
dbSNP Id:
rs1691491631
gnomAD v3:
2-216998694-AATAGACAACAATGCAATATTCTCCTT-A
gnomAD v4:
2-216998694-AATAGACAACAATGCAATATTCTCCTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998697_216998722del , CM000664.2:g.216998697_216998722del | GRCh38 |
| NC_000002.11:g.217863420_217863445del , CM000664.1:g.217863420_217863445del | GRCh37 |
| NC_000002.10:g.217571665_217571690del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4679_299+4704del | ||
| XR_923883.1:n.294+4679_294+4704del | ||
| XR_923885.1:n.862+4679_862+4704del | ||
| XR_923886.1:n.300-2350_300-2325del | ||
| XR_923887.1:n.299+4679_299+4704del | ||
| XR_001739169.1:n.11844+4679_11844+4704del | ||
| XR_001739170.2:n.8480+4679_8480+4704del | ||
| XR_001739171.2:n.8347+4679_8347+4704del |