Linked Data
gnomAD v2:
1-115226984-ACCTGCC-A
gnomAD v3:
1-114684363-ACCTGCC-A
gnomAD v4:
1-114684363-ACCTGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684364_114684369del , CM000663.2:g.114684364_114684369del | GRCh38 |
| NC_000001.10:g.115226985_115226990del , CM000663.1:g.115226985_115226990del | GRCh37 |
| NC_000001.9:g.115028508_115028513del | NCBI36 |
| NG_008012.1:g.16187_16192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-5_370del | ||
| ENST00000520113.7:c.382-5_382del | ||
| ENST00000637080.1:c.385-5_385del | ||
| ENST00000639077.1:n.47-5_47del | ||
| ENST00000369538.3:c.469-5_469del | ||
| ENST00000485564.3:n.256-5_256del | ||
| ENST00000520113.6:c.481-5_481del | ||
| NM_000036.2:c.481-5_481del | ||
| NM_001172626.1:c.469-5_469del | ||
| NM_000036.3:c.382-5_382del | ||
| NM_001172626.2:c.370-5_370del |