Linked Data
gnomAD v4:
11-5253085-CACACATAGCCATGTATAAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253093_5253112del , CM000673.2:g.5253093_5253112del | GRCh38 |
| NC_000011.9:g.5274323_5274342del , CM000673.1:g.5274323_5274342del | GRCh37 |
| NC_000011.8:g.5230899_5230918del | NCBI36 |
| NG_000007.3:g.44511_44530del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.315+1187_315+1206del | ENSP00000495346.1:n.315+1187_315+1206del | |
| ENST00000647543.1:c.378+238_378+257del | ENSP00000496470.1:n.378+238_378+257del | |
| ENST00000620888.4:c.315+1187_315+1206del | ENSP00000479637.1:n.315+1187_315+1206del |