ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062914_189062920del , CM000664.2:g.189062914_189062920del | GRCh38 |
| NC_000002.11:g.189927640_189927646del , CM000664.1:g.189927640_189927646del | GRCh37 |
| NC_000002.10:g.189635885_189635891del | NCBI36 |
| NG_011799.1:g.121960_121966del | |
| NG_011799.2:g.121960_121966del | |
| NG_011799.3:g.167382_167388del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1924-2_1928del | ||
| ENST00000374866.7:c.1924-2_1928del | ||
| ENST00000470524.2:n.30-2_34del | ||
| ENST00000618828.1:c.763-2_767del | ||
| NM_000393.3:c.1924-2_1928del | ||
| XM_011510573.1:c.1786-2_1790del | ||
| NM_000393.4:c.1924-2_1928del | ||
| XM_011510573.3:c.1786-2_1790del | ||
| NM_000393.5:c.1924-2_1928del |