Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075058_38075059insTG , CM000664.2:g.38075058_38075059insTG | GRCh38 |
| NC_000002.11:g.38302201_38302202insTG , CM000664.1:g.38302201_38302202insTG | GRCh37 |
| NC_000002.10:g.38155705_38155706insTG | NCBI36 |
| NG_008386.2:g.6043_6044insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.330_331insCA | ENSP00000478839.2:p.Gly111GlnfsTer? | |
| ENST00000610745.5:c.330_331insCA MANE Select | ENSP00000478561.1:p.Gly111GlnfsTer? | |
| ENST00000490576.1:c.330_331insCA | ENSP00000478839.1:p.Gly111GlnfsTer? | |
| ENST00000494864.1:c.-70-3749_-70-3748insCA | ENSP00000479876.1:n.-70-3749_-70-3748insCA | |
| ENST00000610745.4:c.330_331insCA | ENSP00000478561.1:p.Gly111GlnfsTer? | |
| ENST00000613082.1:n.376-651_376-650insCA | ||
| ENST00000614273.1:c.330_331insCA | ENSP00000483678.1:p.Gly111GlnfsTer? | |
| NM_000104.3:c.330_331insCA | NP_000095.2:p.Gly111GlnfsTer? | |
| NM_000104.4:c.330_331insCA MANE Select | NP_000095.2:p.Gly111GlnfsTer? |