Linked Data
gnomAD v4:
5-135028730-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028731del , CM000667.2:g.135028731del | GRCh38 |
| NC_000005.9:g.134364421del , CM000667.1:g.134364421del | GRCh37 |
| NC_000005.8:g.134392320del | NCBI36 |
| NG_012114.1:g.10544del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*48del MANE Select | ENSP00000265340.6:n.*48del | |
| ENST00000265340.11:c.*48del | ENSP00000265340.6:n.*48del | |
| ENST00000506438.5:c.*48del | ENSP00000427542.1:n.*48del | |
| NM_002653.4:c.*48del | NP_002644.4:n.*48del | |
| NM_002653.5:c.*48del MANE Select | NP_002644.4:n.*48del |