Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144952_185144953delinsAG , CM000666.2:g.185144952_185144953delinsAG | GRCh38 |
| NC_000004.11:g.186066106_186066107delinsAG , CM000666.1:g.186066106_186066107delinsAG | GRCh37 |
| NC_000004.10:g.186303100_186303101delinsAG | NCBI36 |
| NG_013001.1:g.6690_6691delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.300_301delinsAG MANE Select | ENSP00000281456.5:p.Leu100= | |
| ENST00000281456.10:c.300_301delinsAG | ENSP00000281456.5:p.Leu100= | |
| ENST00000491736.1:c.300_301delinsAG | ENSP00000476711.1:p.Leu100= | |
| NM_001151.3:c.300_301delinsAG | NP_001142.2:p.Leu100= | |
| NM_001151.4:c.300_301delinsAG MANE Select | NP_001142.2:p.Leu100= |