Linked Data
gnomAD v4:
7-94426637-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426639del , CM000669.2:g.94426639del | GRCh38 |
| NC_000007.13:g.94055951del , CM000669.1:g.94055951del | GRCh37 |
| NC_000007.12:g.93893887del | NCBI36 |
| NG_007405.1:g.37079del , LRG_2:g.37079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3105+109del MANE Select | ENSP00000297268.6:n.3105+109del | |
| ENST00000297268.10:c.3105+109del | ENSP00000297268.6:n.3105+109del | |
| ENST00000478215.1:n.773del | ||
| ENST00000481570.5:n.3187del | ||
| ENST00000488121.1:n.21+109del | ||
| ENST00000620463.1:c.3099+109del | ENSP00000477719.1:n.3099+109del | |
| NM_000089.3:c.3105+109del , LRG_2t1:c.3105+109del | NP_000080.2:n.3105+109del | |
| NM_000089.4:c.3105+109del MANE Select | NP_000080.2:n.3105+109del |