Linked Data
dbSNP Id:
rs1567679584
gnomAD v2:
17-7357893-GAA-G
gnomAD v3:
17-7454574-GAA-G
gnomAD v4:
17-7454574-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454575_7454576del , CM000679.2:g.7454575_7454576del | GRCh38 |
| NC_000017.10:g.7357894_7357895del , CM000679.1:g.7357894_7357895del | GRCh37 |
| NC_000017.9:g.7298618_7298619del | NCBI36 |
| NG_008026.1:g.14489_14490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1044+55_1044+56del MANE Select | ENSP00000304290.2:n.1044+55_1044+56del | |
| ENST00000306071.6:c.1044+55_1044+56del | ENSP00000304290.2:n.1044+55_1044+56del | |
| ENST00000536404.6:c.828+55_828+56del | ENSP00000439209.2:n.828+55_828+56del | |
| ENST00000570557.5:c.707+55_707+56del | ||
| ENST00000573209.1:n.1988+55_1988+56del | ||
| ENST00000576360.1:c.681+55_681+56del | ENSP00000459092.1:n.681+55_681+56del | |
| NM_000747.2:c.1044+55_1044+56del | NP_000738.2:n.1044+55_1044+56del | |
| NM_000747.3:c.1044+55_1044+56del MANE Select | NP_000738.2:n.1044+55_1044+56del |