Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68646737_68646738insG , CM000666.2:g.68646737_68646738insG | GRCh38 |
| NC_000004.11:g.69512455_69512456insG , CM000666.1:g.69512455_69512456insG | GRCh37 |
| NC_000004.10:g.69195050_69195051insG | NCBI36 |
| NG_052676.1:g.29039_29040insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.*366_*367insC MANE Select | ENSP00000341045.5:n.*366_*367insC | |
| ENST00000338206.5:c.*366_*367insC | ENSP00000341045.5:n.*366_*367insC | |
| ENST00000616841.4:c.1732+227_1732+228insC | ENSP00000482004.1:n.1732+227_1732+228insC | |
| NM_001076.3:c.*366_*367insC | NP_001067.2:n.*366_*367insC | |
| NM_001076.4:c.*366_*367insC MANE Select | NP_001067.2:n.*366_*367insC |