Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988915_94988916insCAC , CM000672.2:g.94988915_94988916insCAC | GRCh38 |
| NC_000010.10:g.96748672_96748673insCAC , CM000672.1:g.96748672_96748673insCAC | GRCh37 |
| NC_000010.9:g.96738662_96738663insCAC | NCBI36 |
| NG_008385.1:g.55258_55259insCAC | |
| NG_008385.2:g.55758_55759insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1360_1361insCAC MANE Select | ENSP00000260682.6:p.Leu453_Gln454insPro | |
| ENST00000643112.1:c.*369_*370insCAC | ENSP00000496202.1:n.*369_*370insCAC | |
| ENST00000260682.6:c.1360_1361insCAC | ENSP00000260682.6:p.Leu453_Gln454insPro | |
| NM_000771.3:c.1360_1361insCAC | NP_000762.2:p.Leu453_Gln454insPro | |
| NM_000771.4:c.1360_1361insCAC MANE Select | NP_000762.2:p.Leu453_Gln454insPro |