Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251891_2251892insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC , CM000681.2:g.2251891_2251892insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | GRCh38 |
| NC_000019.9:g.2251890_2251891insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC , CM000681.1:g.2251890_2251891insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | GRCh37 |
| NC_000019.8:g.2202890_2202891insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | NCBI36 |
| NG_012190.1:g.7778_7779insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | |
| NG_032853.1:g.9532_9533insGCCGCAGCCTTCGCAGCCATAAGCCCAACACGAACTGTCGCCACAGCCGCGAGCGCACCAACAAACGCCTGAATAGGGGCAGGCAGCTTAGCGAAAGCGTTAACGACACCAGTCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC MANE Select | ENSP00000221496.2:p.Ser540AlafsTer? | |
| ENST00000221496.4:c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | ENSP00000221496.2:p.Ser540AlafsTer? | |
| NM_000479.3:c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | NP_000470.2:p.Ser540AlafsTer? | |
| NM_000479.4:c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC | NP_000470.2:p.Ser540AlafsTer? | |
| NM_000479.5:c.1617_1618insGCGACTGGTGTCGTTAACGCTTTCGCTAAGCTGCCTGCCCCTATTCAGGCGTTTGTTGGTGCGCTCGCGGCTGTGGCGACAGTTCGTGTTGGGCTTATGGCTGCGAAGGCTGCGGC MANE Select | NP_000470.3:p.Ser540AlafsTer? |