Linked Data
dbSNP Id:
rs1753473313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994597_148994598insGTGTGGTT , CM000667.2:g.148994597_148994598insGTGTGGTT | GRCh38 |
| NC_000005.9:g.148374160_148374161insGTGTGGTT , CM000667.1:g.148374160_148374161insGTGTGGTT | GRCh37 |
| NC_000005.8:g.148354353_148354354insGTGTGGTT | NCBI36 |
| NG_007947.2:g.73583_73584insACAACCAC , LRG_269:g.73583_73584insACAACCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10119_*10120insACAACCAC MANE Select | ENSP00000423660.1:n.*10119_*10120insACAACCAC | |
| ENST00000504690.5:c.*12+9134_*12+9135insACAACCAC | ENSP00000425627.1:n.*12+9134_*12+9135insACAACCAC | |
| ENST00000510350.1:n.231+12289_231+12290insACAACCAC | ||
| NM_024577.3:c.*10119_*10120insACAACCAC , LRG_269t1:c.*10119_*10120insACAACCAC | NP_078853.2:n.*10119_*10120insACAACCAC | |
| NM_024577.4:c.*10119_*10120insACAACCAC MANE Select | NP_078853.2:n.*10119_*10120insACAACCAC |