Linked Data
gnomAD v4:
X-25010167-A-ACCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010171_25010173dup , CM000685.2:g.25010171_25010173dup | GRCh38 |
| NC_000023.10:g.25028288_25028290dup , CM000685.1:g.25028288_25028290dup | GRCh37 |
| NC_000023.9:g.24938209_24938211dup | NCBI36 |
| NG_008281.1:g.10779_10781dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1119+90_1119+92dup MANE Select | ENSP00000368332.4:n.1119+90_1119+92dup | |
| ENST00000379044.4:c.1119+90_1119+92dup | ENSP00000368332.4:n.1119+90_1119+92dup | |
| NM_139058.2:c.1119+90_1119+92dup | NP_620689.1:n.1119+90_1119+92dup | |
| NM_139058.3:c.1119+90_1119+92dup MANE Select | NP_620689.1:n.1119+90_1119+92dup |