Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191014692_191014694del , CM000664.2:g.191014692_191014694del | GRCh38 |
| NC_000002.11:g.191879418_191879420del , CM000664.1:g.191879418_191879420del | GRCh37 |
| NC_000002.10:g.191587663_191587665del | NCBI36 |
| NG_008294.1:g.4560_4562del , LRG_111:g.4560_4562del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432058.1:c.-155-1013_-155-1011del | ENSP00000416019.1:n.-155-1013_-155-1011de... | |
| ENST00000454414.5:c.-1-4687_-1-4685del | ENSP00000411398.1:n.-1-4687_-1-4685del |