Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378505_61378509delinsCTGAT , CM000664.2:g.61378505_61378509delinsCTGAT | GRCh38 |
| NC_000002.11:g.61605640_61605644delinsCTGAT , CM000664.1:g.61605640_61605644delinsCTGAT | GRCh37 |
| NC_000002.10:g.61459144_61459148delinsCTGAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1015-85_1015-81delinsATCAG MANE Select | ENSP00000381577.2:n.1015-85_1015-81delinsATCAG | |
| ENST00000398571.6:c.1015-85_1015-81delinsATCAG | ENSP00000381577.2:n.1015-85_1015-81delinsATCAG | |
| ENST00000453133.1:c.541-85_541-81delinsATCAG | ||
| NM_014709.3:c.1015-85_1015-81delinsATCAG | NP_055524.3:n.1015-85_1015-81delinsATCAG | |
| NM_014709.4:c.1015-85_1015-81delinsATCAG MANE Select | NP_055524.3:n.1015-85_1015-81delinsATCAG |