Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3118944_3118945delinsTA , CM000681.2:g.3118944_3118945delinsTA | GRCh38 |
| NC_000019.9:g.3118942_3118943delinsTA , CM000681.1:g.3118942_3118943delinsTA | GRCh37 |
| NC_000019.8:g.3069942_3069943delinsTA | NCBI36 |
| NG_033852.2:g.29535_29536delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.626_627delinsTA MANE Select | ENSP00000078429.3:p.Gln209Leu | |
| ENST00000078429.8:c.626_627delinsTA | ENSP00000078429.3:p.Gln209Leu | |
| ENST00000586180.1:n.145_146delinsTA | ||
| ENST00000587636.1:c.172_173delinsTA | ||
| ENST00000590534.1:n.1795_1796delinsTA | ||
| ENST00000591301.1:n.132_133delinsTA | ||
| NM_002067.4:c.626_627delinsTA | NP_002058.2:p.Gln209Leu | |
| NM_002067.5:c.626_627delinsTA MANE Select | NP_002058.2:p.Gln209Leu |