Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800030_24800047dup , CM000666.2:g.24800030_24800047dup | GRCh38 |
| NC_000004.11:g.24801652_24801669dup , CM000666.1:g.24801652_24801669dup | GRCh37 |
| NC_000004.10:g.24410750_24410767dup | NCBI36 |
| NG_012213.1:g.9568_9585dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.509_526dup MANE Select | ENSP00000371554.3:p.Gly175_Arg176insProHisSerIleValGly | |
| ENST00000382120.3:c.509_526dup | ENSP00000371554.3:p.Gly175_Arg176insProHisSerIleValGly | |
| NM_003102.2:c.509_526dup | NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly | |
| XR_427488.1:n.699_716dup | ||
| NM_003102.3:c.509_526dup | NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly | |
| NM_003102.4:c.509_526dup MANE Select | NP_003093.2:p.Gly175_Arg176insProHisSerIleValGly |