Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835185_102835188dup , CM000672.2:g.102835185_102835188dup | GRCh38 |
| NC_000010.10:g.104594942_104594945dup , CM000672.1:g.104594942_104594945dup | GRCh37 |
| NC_000010.9:g.104584932_104584935dup | NCBI36 |
| NG_007955.1:g.7348_7351dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.436+68_436+71dup MANE Select | ENSP00000358903.3:n.436+68_436+71dup | |
| ENST00000638190.1:c.436+68_436+71dup | ENSP00000492539.1:n.436+68_436+71dup | |
| ENST00000638272.1:c.297+1879_297+1882dup | ENSP00000491508.1:n.297+1879_297+1882dup | |
| ENST00000638971.1:c.436+68_436+71dup | ENSP00000492313.1:n.436+68_436+71dup | |
| ENST00000639393.1:c.436+68_436+71dup | ENSP00000492651.1:n.436+68_436+71dup | |
| ENST00000640633.1:n.198+68_198+71dup | ||
| ENST00000369887.3:c.436+68_436+71dup | ENSP00000358903.3:n.436+68_436+71dup | |
| ENST00000489268.1:n.690+68_690+71dup | ||
| NM_000102.3:c.436+68_436+71dup | NP_000093.1:n.436+68_436+71dup | |
| NM_000102.4:c.436+68_436+71dup MANE Select | NP_000093.1:n.436+68_436+71dup |