Linked Data
gnomAD v4:
5-1213319-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213319_1213320insAT , CM000667.2:g.1213319_1213320insAT | GRCh38 |
| NC_000005.9:g.1213434_1213435insAT , CM000667.1:g.1213434_1213435insAT | GRCh37 |
| NC_000005.8:g.1266434_1266435insAT | NCBI36 |
| NG_008282.1:g.16725_16726insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-144_664-143insAT MANE Select | ENSP00000305302.10:n.664-144_664-143insAT | |
| ENST00000304460.10:c.664-144_664-143insAT | ENSP00000305302.10:n.664-144_664-143insAT | |
| ENST00000515652.5:c.572-144_572-143insAT | ENSP00000425701.1:n.572-144_572-143insAT | |
| NM_001003841.2:c.664-144_664-143insAT | NP_001003841.1:n.664-144_664-143insAT | |
| NM_001003841.3:c.664-144_664-143insAT MANE Select | NP_001003841.1:n.664-144_664-143insAT |