Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350255_47350256insCAACCAAACACACCCA , CM000672.2:g.47350255_47350256insCAACCAAACACACCCA | GRCh38 |
| NC_000010.10:g.48389106_48389107insTGGGTGTGTTTGGTTG , CM000672.1:g.48389106_48389107insTGGGTGTGTTTGGTTG | GRCh37 |
| NC_000010.9:g.48009112_48009113insTGGGTGTGTTTGGTTG | NCBI36 |
| NG_029718.1:g.6885_6886insCAACCAAACACACCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1771_1772insCAACCAAACACACCCA MANE Select | ENSP00000463151.1:p.Leu591ProfsTer? | |
| ENST00000584701.1:c.1771_1772insCAACCAAACACACCCA | ENSP00000463151.1:p.Leu591ProfsTer? | |
| NM_002900.2:c.1771_1772insCAACCAAACACACCCA | NP_002891.1:p.Leu591ProfsTer? | |
| NM_002900.3:c.1771_1772insCAACCAAACACACCCA MANE Select | NP_002891.1:p.Leu591ProfsTer? |