Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197683dup , CM000666.2:g.186197683dup | GRCh38 |
| NC_000004.11:g.187118837dup , CM000666.1:g.187118837dup | GRCh37 |
| NC_000004.10:g.187355831dup | NCBI36 |
| NG_007965.1:g.11164dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.674+81dup MANE Select | ENSP00000368079.4:n.674+81dup | |
| ENST00000378802.4:c.674+81dup | ENSP00000368079.4:n.674+81dup | |
| ENST00000507209.5:n.1515+81dup | ||
| NM_207352.3:c.674+81dup | NP_997235.3:n.674+81dup | |
| XM_005262935.2:c.674+81dup | XP_005262992.1:n.674+81dup | |
| XM_006714184.2:c.278+81dup | XP_006714247.1:n.278+81dup | |
| XM_005262935.4:c.674+81dup | XP_005262992.1:n.674+81dup | |
| XM_017008037.1:c.278+81dup | XP_016863526.1:n.278+81dup | |
| NM_207352.4:c.674+81dup MANE Select | NP_997235.3:n.674+81dup |