Linked Data
gnomAD v3:
11-2444889-TGCAGGCGGGGGCGGGGCAC-T
gnomAD v4:
11-2444889-TGCAGGCGGGGGCGGGGCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444892_2444910del , CM000673.2:g.2444892_2444910del | GRCh38 |
| NC_000011.9:g.2466122_2466140del , CM000673.1:g.2466122_2466140del | GRCh37 |
| NC_000011.8:g.2422698_2422716del | NCBI36 |
| NG_008935.1:g.4902_4920del , LRG_287:g.4902_4920del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+184_23+202del | ENSP00000434560.2:n.23+184_23+202del | |
| ENST00000496887.6:c.23+184_23+202del | ENSP00000434560.1:n.23+184_23+202del |