Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666060_39666061insCCCTG , CM000679.2:g.39666060_39666061insCCCTG | GRCh38 |
| NC_000017.10:g.37822313_37822314insCCCTG , CM000679.1:g.37822313_37822314insCCCTG | GRCh37 |
| NC_000017.9:g.35075839_35075840insCCCTG | NCBI36 |
| NG_008892.1:g.5715_5716insCCCTG , LRG_210:g.5715_5716insCCCTG | |
| NG_042278.1:g.3080_3081insCCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.455_456insCCCTG MANE Select | ENSP00000312624.2:p.Arg153ProfsTer? | |
| ENST00000309889.2:c.455_456insCCCTG | ENSP00000312624.2:p.Arg153ProfsTer? | |
| ENST00000578283.1:c.383_384insCCCTG | ENSP00000462787.1:p.Arg129ProfsTer? | |
| NM_003673.3:c.455_456insCCCTG , LRG_210t1:c.455_456insCCCTG | NP_003664.1:p.Arg153ProfsTer? | |
| NM_003673.4:c.455_456insCCCTG MANE Select | NP_003664.1:p.Arg153ProfsTer? |