Linked Data
dbSNP Id:
rs1798176509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491697_11491700del , CM000670.2:g.11491697_11491700del | GRCh38 |
| NC_000008.10:g.11349206_11349209del , CM000670.1:g.11349206_11349209del | GRCh37 |
| NC_000008.9:g.11386615_11386618del | NCBI36 |
| NG_023543.1:g.2686_2689del | |
| NG_023543.2:g.2686_2689del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.274+4530_274+4533del | ||
| ENST00000696154.1:c.-91+4530_-91+4533del | ENSP00000512445.1:n.-91+4530_-91+4533del | |
| ENST00000645242.1:c.-91+4530_-91+4533del | ENSP00000494690.1:n.-91+4530_-91+4533del |