Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977963_149977964delinsTA , CM000667.2:g.149977963_149977964delinsTA | GRCh38 |
| NC_000005.9:g.149357526_149357527delinsTA , CM000667.1:g.149357526_149357527delinsTA | GRCh37 |
| NC_000005.8:g.149337719_149337720delinsTA | NCBI36 |
| NG_007147.2:g.19081_19082delinsTA , LRG_684:g.19081_19082delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.543_544delinsTA | ||
| ENST00000286298.5:c.311_312delinsTA MANE Select | ENSP00000286298.4:p.Leu104= | |
| ENST00000286298.4:c.311_312delinsTA | ENSP00000286298.4:p.Leu104= | |
| NM_000112.3:c.311_312delinsTA , LRG_684t1:c.311_312delinsTA | NP_000103.2:p.Leu104= | |
| XM_017009191.2:c.311_312delinsTA | XP_016864680.1:p.Leu104= | |
| NM_000112.4:c.311_312delinsTA MANE Select | NP_000103.2:p.Leu104= |