Linked Data
gnomAD v4:
5-1213368-G-GCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213370_1213372dup , CM000667.2:g.1213370_1213372dup | GRCh38 |
| NC_000005.9:g.1213485_1213487dup , CM000667.1:g.1213485_1213487dup | GRCh37 |
| NC_000005.8:g.1266485_1266487dup | NCBI36 |
| NG_008282.1:g.16776_16778dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-93_664-91dup MANE Select | ENSP00000305302.10:n.664-93_664-91dup | |
| ENST00000304460.10:c.664-93_664-91dup | ENSP00000305302.10:n.664-93_664-91dup | |
| ENST00000515652.5:c.572-93_572-91dup | ENSP00000425701.1:n.572-93_572-91dup | |
| NM_001003841.2:c.664-93_664-91dup | NP_001003841.1:n.664-93_664-91dup | |
| NM_001003841.3:c.664-93_664-91dup MANE Select | NP_001003841.1:n.664-93_664-91dup |