Linked Data
dbSNP Id:
rs557148390
gnomAD v2:
2-217863315-CCAG-C
gnomAD v3:
2-216998592-CCAG-C
gnomAD v4:
2-216998592-CCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998593_216998595del , CM000664.2:g.216998593_216998595del | GRCh38 |
| NC_000002.11:g.217863316_217863318del , CM000664.1:g.217863316_217863318del | GRCh37 |
| NC_000002.10:g.217571561_217571563del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4575_299+4577del | ||
| XR_923883.1:n.294+4575_294+4577del | ||
| XR_923885.1:n.862+4575_862+4577del | ||
| XR_923886.1:n.300-2454_300-2452del | ||
| XR_923887.1:n.299+4575_299+4577del | ||
| XR_001739169.1:n.11844+4575_11844+4577del | ||
| XR_001739170.2:n.8480+4575_8480+4577del | ||
| XR_001739171.2:n.8347+4575_8347+4577del |