MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829877_68829890dup , CM000685.2:g.68829877_68829890dup | GRCh38 |
| NC_000023.10:g.68049720_68049733dup , CM000685.1:g.68049720_68049733dup | GRCh37 |
| NC_000023.9:g.67966445_67966458dup | NCBI36 |
| NG_008887.1:g.5881_5894dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.101_114dup MANE Select | ENSP00000204961.4:p.Ser39ProfsTer12 | |
| ENST00000204961.4:c.101_114dup | ENSP00000204961.4:p.Ser39ProfsTer12 | |
| NM_004429.4:c.101_114dup | NP_004420.1:p.Ser39ProfsTer12 | |
| NM_004429.5:c.101_114dup MANE Select | NP_004420.1:p.Ser39ProfsTer12 |