Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.61332351_61332368dup , CM000667.2:g.61332351_61332368dup | GRCh38 |
| NC_000005.9:g.60628178_60628195dup , CM000667.1:g.60628178_60628195dup | GRCh37 |
| NC_000005.8:g.60663935_60663952dup | NCBI36 |
| NG_053150.1:g.5079_5096dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020928.2:c.79_96dup MANE Select | NP_065979.1:p.Gly32_Gly33insSerSerGlyGlyGlyGly |
| ENST00000252744.6:c.79_96dup MANE Select | ENSP00000252744.5:p.Gly32_Gly33insSerSerGlyGlyGlyGly |
| NM_020928.1:c.79_96dup | NP_065979.1:p.Gly32_Gly33insSerSerGlyGlyGlyGly |
| ENST00000252744.5:c.79_96dup | ENSP00000252744.5:p.Gly32_Gly33insSerSerGlyGlyGlyGly |