Linked Data
gnomAD v4:
14-74493511-C-CCCACCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493514_74493519dup , CM000676.2:g.74493514_74493519dup | GRCh38 |
| NC_000014.8:g.74960217_74960222dup , CM000676.1:g.74960217_74960222dup | GRCh37 |
| NC_000014.7:g.74029970_74029975dup | NCBI36 |
| NG_007117.1:g.4865_4870dup | |
| NG_033074.1:g.4795_4800dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+53_-64+58dup | ENSP00000450887.1:n.-64+53_-64+58dup | |
| ENST00000556009.5:c.147+514_147+519dup |