Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174650_21174652delinsTTG , CM000674.2:g.21174650_21174652delinsTTG | GRCh38 |
| NC_000012.11:g.21327584_21327586delinsTTG , CM000674.1:g.21327584_21327586delinsTTG | GRCh37 |
| NC_000012.10:g.21218851_21218853delinsTTG | NCBI36 |
| NG_011745.1:g.48457_48459delinsTTG , LRG_1022:g.48457_48459delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.300_302delinsTTG MANE Select | ENSP00000256958.2:p.Gly100= | |
| ENST00000256958.2:c.300_302delinsTTG | ENSP00000256958.2:p.Gly100= | |
| ENST00000543498.5:c.426-2126_426-2124delinsTTG | ||
| NM_006446.4:c.300_302delinsTTG , LRG_1022t1:c.300_302delinsTTG | NP_006437.3:p.Gly100= | |
| NM_006446.5:c.300_302delinsTTG MANE Select | NP_006437.3:p.Gly100= |