Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966298_37966303dup , CM000670.2:g.37966298_37966303dup | GRCh38 |
| NC_000008.10:g.37823816_37823821dup , CM000670.1:g.37823816_37823821dup | GRCh37 |
| NC_000008.9:g.37942973_37942978dup | NCBI36 |
| NG_011936.1:g.5365_5370dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.168_173dup MANE Select | ENSP00000343782.3:p.Val58_Ile59insLeuVal | |
| ENST00000520341.2:n.296_301dup | ||
| ENST00000345060.4:c.168_173dup | ENSP00000343782.3:p.Val58_Ile59insLeuVal | |
| ENST00000614635.1:c.168_173dup | ENSP00000480325.1:p.Val58_Ile59insLeuVal | |
| NM_000025.2:c.168_173dup | NP_000016.1:p.Val58_Ile59insLeuVal | |
| NM_000025.3:c.168_173dup MANE Select | NP_000016.1:p.Val58_Ile59insLeuVal |