Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966078dup , CM000685.2:g.154966078dup | GRCh38 |
| NC_000023.10:g.154194353dup , CM000685.1:g.154194353dup | GRCh37 |
| NC_000023.9:g.153847547dup | NCBI36 |
| NG_011403.1:g.61647dup | |
| NG_011403.2:g.61647dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1336dup MANE Select | ENSP00000353393.4:p.Arg446ProfsTer8 | |
| ENST00000647125.1:c.*1212dup | ENSP00000496062.1:n.*1212dup | |
| ENST00000360256.8:c.1336dup | ENSP00000353393.4:p.Arg446ProfsTer8 | |
| ENST00000483822.2:n.156dup | ||
| NM_000132.3:c.1336dup | NP_000123.1:p.Arg446ProfsTer8 | |
| XM_011531126.1:c.1231dup | XP_011529428.1:p.Arg411ProfsTer8 | |
| NM_000132.4:c.1336dup MANE Select | NP_000123.1:p.Arg446ProfsTer8 |