Linked Data
dbSNP Id:
rs2133034127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1840494_1840530del , CM000673.2:g.1840494_1840530del | GRCh38 |
| NC_000011.9:g.1861724_1861760del , CM000673.1:g.1861724_1861760del | GRCh37 |
| NC_000011.8:g.1818300_1818336del | NCBI36 |
| NG_011621.1:g.6492_6528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.58-34_60del | ||
| ENST00000252898.11:c.58-34_60del | ||
| ENST00000381905.3:c.58-34_60del | ||
| ENST00000381906.5:c.58-34_60del | ||
| ENST00000381911.5:c.58-34_60del | ||
| ENST00000468473.1:n.228-34_230del | ||
| ENST00000617947.4:c.58-34_60del | ||
| NM_001145829.1:c.58-34_60del | ||
| NM_001145841.1:c.58-34_60del | ||
| NM_003282.3:c.58-34_60del | ||
| NM_003282.4:c.58-34_60del | ||
| NM_001145829.2:c.58-34_60del | ||
| NM_001145841.2:c.58-34_60del |