Canonical Allele Identifier:
CA2592474161
Gene:
Linked Data
dbSNP Id:
rs2143017417
gnomAD v3:
17-30237307-GGGGGGCTGC-G
gnomAD v4:
17-30237307-GGGGGGCTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30237308_30237316del , CM000679.2:g.30237308_30237316del | GRCh38 |
| NC_000017.10:g.28564326_28564334del , CM000679.1:g.28564326_28564334del | GRCh37 |
| NC_000017.9:g.25588452_25588460del | NCBI36 |
| NG_011747.2:g.3621_3629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934654.1:n.165+238_165+246del | ||
| XR_001752824.1:n.280+238_280+246del |