Linked Data
gnomAD v4:
19-47004051-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004052_47004053del , CM000681.2:g.47004052_47004053del | GRCh38 |
| NC_000019.9:g.47507309_47507310del , CM000681.1:g.47507309_47507310del | GRCh37 |
| NC_000019.8:g.52199149_52199150del | NCBI36 |
| NG_047014.1:g.90486_90487del | |
| NG_047014.2:g.148056_148057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7864_7865del | ENSP00000385720.2:n.7864_7865del | |
| ENST00000672722.1:c.*3364_*3365del MANE Select | ENSP00000500409.1:n.*3364_*3365del | |
| ENST00000404338.7:c.7864_7865del | ENSP00000385720.2:n.7864_7865del | |
| ENST00000614079.1:c.7441_7442del | ENSP00000483730.1:n.7441_7442del | |
| NM_004491.4:c.7864_7865del | NP_004482.4:n.7864_7865del | |
| NM_004491.5:c.*3364_*3365del MANE Select | NP_004482.4:n.*3364_*3365del |