Linked Data
gnomAD v4:
7-94423151-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423153del , CM000669.2:g.94423153del | GRCh38 |
| NC_000007.13:g.94052465del , CM000669.1:g.94052465del | GRCh37 |
| NC_000007.12:g.93890401del | NCBI36 |
| NG_007405.1:g.33593del , LRG_2:g.33593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2565+35del MANE Select | ENSP00000297268.6:n.2565+35del | |
| ENST00000297268.10:c.2565+35del | ENSP00000297268.6:n.2565+35del | |
| ENST00000481570.5:n.683del | ||
| ENST00000620463.1:c.2559+35del | ENSP00000477719.1:n.2559+35del | |
| NM_000089.3:c.2565+35del , LRG_2t1:c.2565+35del | NP_000080.2:n.2565+35del | |
| NM_000089.4:c.2565+35del MANE Select | NP_000080.2:n.2565+35del |