Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850004_94850005delinsCT , CM000672.2:g.94850004_94850005delinsCT | GRCh38 |
| NC_000010.10:g.96609761_96609762delinsCT , CM000672.1:g.96609761_96609762delinsCT | GRCh37 |
| NC_000010.9:g.96599751_96599752delinsCT | NCBI36 |
| NG_008384.2:g.92299_92300delinsCT | |
| NG_008384.3:g.92324_92325delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1237_1238delinsCT MANE Select | ENSP00000360372.3:p.Leu413= | |
| ENST00000645461.1:n.2148_2149delinsCT | ||
| ENST00000371321.7:c.1237_1238delinsCT | ENSP00000360372.3:p.Leu413= | |
| ENST00000464755.1:c.2000_2001delinsCT | ENSP00000483243.1:n.2000_2001delinsCT | |
| NM_000769.2:c.1237_1238delinsCT | NP_000760.1:p.Leu413= | |
| NM_000769.4:c.1237_1238delinsCT MANE Select | NP_000760.1:p.Leu413= |