Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75564914_75564916delinsACC , CM000664.2:g.75564914_75564916delinsACC | GRCh38 |
| NC_000002.11:g.75792040_75792042delinsACC , CM000664.1:g.75792040_75792042delinsACC | GRCh37 |
| NC_000002.10:g.75645548_75645550delinsACC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233712.5:c.-192+4560_-192+4562delinsGGT | ENSP00000233712.1:n.-192+4560_-192+4562delinsGGT | |
| ENST00000486696.1:n.223+4560_223+4562delinsGGT | ||
| NM_032181.2:c.-192+4560_-192+4562delinsGGT | NP_115557.1:n.-192+4560_-192+4562delinsGGT | |
| NM_032181.3:c.-192+4560_-192+4562delinsGGT | NP_115557.1:n.-192+4560_-192+4562delinsGGT |