Linked Data
gnomAD v4:
1-68429789-AACAGTCCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429790_68429798del , CM000663.2:g.68429790_68429798del | GRCh38 |
| NC_000001.10:g.68895473_68895481del , CM000663.1:g.68895473_68895481del | GRCh37 |
| NC_000001.9:g.68668061_68668069del | NCBI36 |
| NG_008472.1:g.25162_25170del | |
| NG_008472.2:g.25162_25170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1580_1588del MANE Select | ENSP00000262340.5:p.His527_Phe530delinsLeu | |
| ENST00000262340.5:c.1580_1588del | ENSP00000262340.5:p.His527_Phe530delinsLeu | |
| NM_000329.2:c.1580_1588del | NP_000320.1:p.His527_Phe530delinsLeu | |
| XM_017002027.1:c.1304_1312del | XP_016857516.1:p.His435_Phe438delinsLeu | |
| NM_000329.3:c.1580_1588del MANE Select | NP_000320.1:p.His527_Phe530delinsLeu |