Linked Data
gnomAD v4:
11-2444967-GGGCTGGGCCGGCAGCGGCCCCCCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2444971_2444995del , CM000673.2:g.2444971_2444995del | GRCh38 |
| NC_000011.9:g.2466201_2466225del , CM000673.1:g.2466201_2466225del | GRCh37 |
| NC_000011.8:g.2422777_2422801del | NCBI36 |
| NG_008935.1:g.4981_5005del , LRG_287:g.4981_5005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+263_23+287del | ENSP00000434560.2:n.23+263_23+287del | |
| ENST00000496887.6:c.23+263_23+287del | ENSP00000434560.1:n.23+263_23+287del |