Linked Data
dbSNP Id:
rs2123488992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001370_46001399del , CM000683.2:g.46001370_46001399del | GRCh38 |
| NC_000021.8:g.47421284_47421313del , CM000683.1:g.47421284_47421313del | GRCh37 |
| NC_000021.7:g.46245712_46245741del | NCBI36 |
| NG_008674.1:g.24622_24651del , LRG_475:g.24622_24651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.339_355+13del | ||
| ENST00000612273.2:c.66_82+13del | ||
| ENST00000682634.1:c.66_82+13del | ||
| ENST00000361866.8:c.1940_1956+13del | ||
| ENST00000361866.7:c.1940_1956+13del | ||
| ENST00000463060.5:n.339_355+13del | ||
| ENST00000498614.5:n.174_190+13del | ||
| ENST00000612273.1:c.1934_1950+13del | ||
| NM_001848.2:c.1940_1956+13del , LRG_475t1:c.1940_1956+13del | ||
| NM_001848.3:c.1940_1956+13del |