Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172498dup , CM000685.2:g.116172498dup | GRCh38 |
| NC_000023.10:g.115303751dup , CM000685.1:g.115303751dup | GRCh37 |
| NC_000023.9:g.115217779dup | NCBI36 |
| NG_016326.1:g.6794dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.218dup MANE Select | ENSP00000360973.4:p.Pro75SerfsTer2 | |
| ENST00000680409.1:n.686dup | ||
| ENST00000681852.1:c.218dup | ENSP00000505750.1:p.Pro75SerfsTer2 | |
| ENST00000371906.4:c.218dup | ENSP00000360973.4:p.Pro75SerfsTer2 | |
| NM_000686.4:c.218dup | NP_000677.2:p.Pro75SerfsTer2 | |
| XM_011537533.1:c.218dup | XP_011535835.1:p.Pro75SerfsTer2 | |
| NM_000686.5:c.218dup MANE Select | NP_000677.2:p.Pro75SerfsTer2 | |
| NM_001385624.1:c.218dup | NP_001372553.1:p.Pro75SerfsTer2 |