Linked Data
dbSNP Id:
rs746327384
ExAC:
17:32583190 GA / G
gnomAD v2:
17-32583190-GA-G
gnomAD v4:
17-34256171-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256173del , CM000679.2:g.34256173del | GRCh38 |
| NC_000017.10:g.32583192del , CM000679.1:g.32583192del | GRCh37 |
| NC_000017.9:g.29607305del | NCBI36 |
| NG_012123.1:g.5897del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580907.6:c.77-49del | ENSP00000462156.1:n.77-49del | |
| ENST00000624362.2:n.889del | ||
| ENST00000225831.4:c.77-49del MANE Select | ENSP00000225831.4:n.77-49del | |
| ENST00000580907.5:c.77-49del | ENSP00000462156.1:n.77-49del | |
| ENST00000624362.1:n.956del | ||
| NM_002982.3:c.77-49del | NP_002973.1:n.77-49del | |
| NM_002982.4:c.77-49del MANE Select | NP_002973.1:n.77-49del |