Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68371832_68371834delinsCAT , CM000664.2:g.68371832_68371834delinsCAT | GRCh38 |
| NC_000002.11:g.68598964_68598966delinsCAT , CM000664.1:g.68598964_68598966delinsCAT | GRCh37 |
| NC_000002.10:g.68452468_68452470delinsCAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234313.8:c.42+6439_42+6441delinsCAT MANE Select | ENSP00000234313.7:n.42+6439_42+6441delins... | |
| ENST00000234313.7:c.42+6439_42+6441delinsCAT | ENSP00000234313.7:n.42+6439_42+6441delins... | |
| NM_002664.2:c.42+6439_42+6441delinsCAT | NP_002655.2:n.42+6439_42+6441delinsCAT | |
| XM_011532916.1:c.42+6439_42+6441delinsCAT | XP_011531218.1:n.42+6439_42+6441delinsCAT... | |
| NM_002664.3:c.42+6439_42+6441delinsCAT MANE Select | NP_002655.2:n.42+6439_42+6441delinsCAT |