Linked Data
gnomAD v4:
X-25010447-C-CCATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010449_25010452dup , CM000685.2:g.25010449_25010452dup | GRCh38 |
| NC_000023.10:g.25028566_25028569dup , CM000685.1:g.25028566_25028569dup | GRCh37 |
| NC_000023.9:g.24938487_24938490dup | NCBI36 |
| NG_008281.1:g.10498_10501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1074-146_1074-143dup MANE Select | ENSP00000368332.4:n.1074-146_1074-143dup | |
| ENST00000379044.4:c.1074-146_1074-143dup | ENSP00000368332.4:n.1074-146_1074-143dup | |
| NM_139058.2:c.1074-146_1074-143dup | NP_620689.1:n.1074-146_1074-143dup | |
| NM_139058.3:c.1074-146_1074-143dup MANE Select | NP_620689.1:n.1074-146_1074-143dup |