Linked Data
dbSNP Id:
rs2057326692
gnomAD v3:
16-31096129-GCGGTGCCAT-G
gnomAD v4:
16-31096129-GCGGTGCCAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31096131_31096139del , CM000678.2:g.31096131_31096139del | GRCh38 |
| NC_000016.9:g.31107452_31107460del , CM000678.1:g.31107452_31107460del | GRCh37 |
| NC_000016.8:g.31014953_31014961del | NCBI36 |
| NG_011564.1:g.3818_3826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950848.1:n.16+184_16+192del |