Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762835_94762839delinsCAGAT , CM000672.2:g.94762835_94762839delinsCAGAT | GRCh38 |
| NC_000010.10:g.96522592_96522596delinsCAGAT , CM000672.1:g.96522592_96522596delinsCAGAT | GRCh37 |
| NC_000010.9:g.96512582_96512586delinsCAGAT | NCBI36 |
| NG_008384.2:g.5130_5134delinsCAGAT | |
| NG_008384.3:g.5155_5159delinsCAGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.130_134delinsCAGAT MANE Select | ENSP00000360372.3:p.Gln44= | |
| ENST00000371321.7:c.130_134delinsCAGAT | ENSP00000360372.3:p.Gln44= | |
| ENST00000464755.1:c.932-12223_932-12219delinsCAGAT | ENSP00000483243.1:n.932-12223_932-12219delinsCAGAT | |
| ENST00000480405.2:c.130_134delinsCAGAT | ENSP00000483847.1:p.Gln44= | |
| NM_000769.2:c.130_134delinsCAGAT | NP_000760.1:p.Gln44= | |
| NM_000769.4:c.130_134delinsCAGAT MANE Select | NP_000760.1:p.Gln44= |