Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45982314dup , CM000683.2:g.45982314dup | GRCh38 |
| NC_000021.8:g.47402228dup , CM000683.1:g.47402228dup | GRCh37 |
| NC_000021.7:g.46226656dup | NCBI36 |
| NG_008674.1:g.5566dup , LRG_475:g.5566dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.98-320dup MANE Select | ENSP00000355180.3:n.98-320dup | |
| ENST00000361866.7:c.98-320dup | ENSP00000355180.3:n.98-320dup | |
| ENST00000612273.1:c.98-320dup | ENSP00000483630.1:n.98-320dup | |
| NM_001848.2:c.98-320dup , LRG_475t1:c.98-320dup | NP_001839.2:n.98-320dup | |
| NM_001848.3:c.98-320dup MANE Select | NP_001839.2:n.98-320dup |