Linked Data
dbSNP Id:
rs796463769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624514_41624515delinsAG , CM000679.2:g.41624514_41624515delinsAG | GRCh38 |
| NC_000017.10:g.39780766_39780767delinsAG , CM000679.1:g.39780766_39780767delinsAG | GRCh37 |
| NC_000017.9:g.37034292_37034293delinsAG | NCBI36 |
| NG_008625.1:g.5116_5117delinsCT | |
| NG_009090.2:g.167198_167199delinsCT , LRG_401:g.167198_167199delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.-6_-5delinsCT MANE Select | ENSP00000308452.8:n.-6_-5delinsCT | |
| ENST00000311208.12:c.-6_-5delinsCT | ENSP00000308452.8:n.-6_-5delinsCT | |
| ENST00000463128.5:c.-313+228_-313+229delinsCT | ENSP00000468672.1:n.-313+228_-313+229delinsCT | |
| ENST00000491673.1:n.61_62delinsCT | ||
| ENST00000540235.5:c.-211_-210delinsCT | ENSP00000441751.2:n.-211_-210delinsCT | |
| NM_000422.2:c.-6_-5delinsCT | NP_000413.1:n.-6_-5delinsCT | |
| NM_000422.3:c.-6_-5delinsCT MANE Select | NP_000413.1:n.-6_-5delinsCT |