Linked Data
dbSNP Id:
rs775814825
ExAC:
1:68895414 AT / A
gnomAD v2:
1-68895414-AT-A
gnomAD v4:
1-68429731-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429735del , CM000663.2:g.68429735del | GRCh38 |
| NC_000001.10:g.68895418del , CM000663.1:g.68895418del | GRCh37 |
| NC_000001.9:g.68668006del | NCBI36 |
| NG_008472.1:g.25228del | |
| NG_008472.2:g.25228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*44del MANE Select | ENSP00000262340.5:n.*44del | |
| ENST00000262340.5:c.*44del | ENSP00000262340.5:n.*44del | |
| NM_000329.2:c.*44del | NP_000320.1:n.*44del | |
| XM_017002027.1:c.*44del | XP_016857516.1:n.*44del | |
| NM_000329.3:c.*44del MANE Select | NP_000320.1:n.*44del |