Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572795_47572813dup , CM000685.2:g.47572795_47572813dup | GRCh38 |
| NC_000023.10:g.47432194_47432212dup , CM000685.1:g.47432194_47432212dup | GRCh37 |
| NC_000023.9:g.47317138_47317156dup | NCBI36 |
| NG_008437.1:g.52047_52065dup | |
| NG_016339.1:g.16679_16697dup | |
| NG_016339.2:g.16679_16697dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*53_*71dup MANE Select | ENSP00000295987.7:n.*53_*71dup | |
| ENST00000340666.5:c.*123_*141dup | ENSP00000343206.4:n.*123_*141dup | |
| ENST00000640721.1:c.221_239dup | ENSP00000492857.1:n.221_239dup | |
| ENST00000295987.11:c.*53_*71dup | ENSP00000295987.7:n.*53_*71dup | |
| ENST00000340666.4:c.*123_*141dup | ENSP00000343206.4:n.*123_*141dup | |
| NM_006950.3:c.*53_*71dup MANE Select | NP_008881.2:n.*53_*71dup | |
| NM_133499.2:c.*123_*141dup | NP_598006.1:n.*123_*141dup |