Linked Data
gnomAD v4:
14-74493520-GCCCCGCCCCGCCTCACTCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493531_74493550del , CM000676.2:g.74493531_74493550del | GRCh38 |
| NC_000014.8:g.74960234_74960253del , CM000676.1:g.74960234_74960253del | GRCh37 |
| NC_000014.7:g.74029987_74030006del | NCBI36 |
| NG_007117.1:g.4842_4861del | |
| NG_033074.1:g.4812_4831del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+30_-64+49del | ENSP00000450887.1:n.-64+30_-64+49del | |
| ENST00000556009.5:c.147+491_147+510del |