Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2433968_2433969insAG , CM000681.2:g.2433968_2433969insAG | GRCh38 |
| NC_000019.9:g.2433966_2433967insAG , CM000681.1:g.2433966_2433967insAG | GRCh37 |
| NC_000019.8:g.2384966_2384967insAG | NCBI36 |
| NG_008355.1:g.27992_27993insCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1339_1340insCT MANE Select | NP_116126.3:p.Ser447ThrfsTer? |
| ENST00000325327.4:c.1339_1340insCT MANE Select | ENSP00000327054.3:p.Ser447ThrfsTer? |
| NM_032737.3:c.1339_1340insCT | NP_116126.3:p.Ser447ThrfsTer? |
| ENST00000325327.3:c.1339_1340insCT | ENSP00000327054.3:p.Ser447ThrfsTer? |
| ENST00000490554.5:n.530_531insCT | |
| XM_011528378.1:c.1339_1340insCT | XP_011526680.1:p.Ser447ThrfsTer? |
| XM_011528379.1:c.991_992insCT | XP_011526681.1:p.Ser331ThrfsTer? |