Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769871_94769872insTCC , CM000676.2:g.94769871_94769872insTCC | GRCh38 |
| NC_000014.8:g.95236208_95236209insTCC , CM000676.1:g.95236208_95236209insTCC | GRCh37 |
| NC_000014.7:g.94305961_94305962insTCC | NCBI36 |
| NG_034111.1:g.5293_5294insAGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.146_147insAGG MANE Select | NP_776248.1:p.Gly49_Ala50insGly |
| ENST00000238558.5:c.146_147insAGG MANE Select | ENSP00000238558.3:p.Gly49_Ala50insGly |
| NM_173849.2:c.146_147insAGG | NP_776248.1:p.Gly49_Ala50insGly |
| ENST00000238558.4:c.146_147insAGG | ENSP00000238558.3:p.Gly49_Ala50insGly |