Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68371784_68371787delinsCACA , CM000664.2:g.68371784_68371787delinsCACA | GRCh38 |
| NC_000002.11:g.68598916_68598919delinsCACA , CM000664.1:g.68598916_68598919delinsCACA | GRCh37 |
| NC_000002.10:g.68452420_68452423delinsCACA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234313.8:c.42+6391_42+6394delinsCACA MANE Select | ENSP00000234313.7:n.42+6391_42+6394delinsCACA | |
| ENST00000234313.7:c.42+6391_42+6394delinsCACA | ENSP00000234313.7:n.42+6391_42+6394delinsCACA | |
| NM_002664.2:c.42+6391_42+6394delinsCACA | NP_002655.2:n.42+6391_42+6394delinsCACA | |
| XM_011532916.1:c.42+6391_42+6394delinsCACA | XP_011531218.1:n.42+6391_42+6394delinsCACA | |
| NM_002664.3:c.42+6391_42+6394delinsCACA MANE Select | NP_002655.2:n.42+6391_42+6394delinsCACA |