Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722326_42722328dup , CM000668.2:g.42722326_42722328dup | GRCh38 |
| NC_000006.11:g.42690064_42690066dup , CM000668.1:g.42690064_42690066dup | GRCh37 |
| NC_000006.10:g.42798042_42798044dup | NCBI36 |
| NG_009176.1:g.5295_5297dup | |
| NG_009176.2:g.5295_5297dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.9_11dup MANE Select | ENSP00000230381.5:p.Leu4_Lys5insLeu | |
| ENST00000230381.6:c.9_11dup | ENSP00000230381.5:p.Leu4_Lys5insLeu | |
| NM_000322.4:c.9_11dup | NP_000313.2:p.Leu4_Lys5insLeu | |
| XR_427834.2:n.664_666dup | ||
| XR_926295.1:n.664_666dup | ||
| XR_427834.4:n.714_716dup | ||
| XR_926295.3:n.714_716dup | ||
| NM_000322.5:c.9_11dup MANE Select | NP_000313.2:p.Leu4_Lys5insLeu |