Linked Data
gnomAD v4:
16-2278525-TGGAGGCCCGTGTCCCAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278526_2278543del , CM000678.2:g.2278526_2278543del | GRCh38 |
| NC_000016.9:g.2328527_2328544del , CM000678.1:g.2328527_2328544del | GRCh37 |
| NC_000016.8:g.2268528_2268545del | NCBI36 |
| NG_011790.1:g.67204_67221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4548-85_4548-68del MANE Select | ENSP00000301732.5:n.4548-85_4548-68del | |
| ENST00000301732.9:c.4548-85_4548-68del | ENSP00000301732.5:n.4548-85_4548-68del | |
| ENST00000382381.7:c.4374-85_4374-68del | ENSP00000371818.3:n.4374-85_4374-68del | |
| ENST00000566200.1:n.1069-85_1069-68del | ||
| NM_001089.2:c.4548-85_4548-68del | NP_001080.2:n.4548-85_4548-68del | |
| NM_001089.3:c.4548-85_4548-68del MANE Select | NP_001080.2:n.4548-85_4548-68del |