Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422232_23422233insG , CM000676.2:g.23422232_23422233insG | GRCh38 |
| NC_000014.8:g.23891441_23891442insG , CM000676.1:g.23891441_23891442insG | GRCh37 |
| NC_000014.7:g.22961281_22961282insG | NCBI36 |
| NG_007884.1:g.18429_18430insC , LRG_384:g.18429_18430insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3192_3193insC MANE Select | ENSP00000347507.3:p.Ser1065GlnfsTer8 | |
| ENST00000355349.3:c.3192_3193insC | ENSP00000347507.3:p.Ser1065GlnfsTer8 | |
| NM_000257.3:c.3192_3193insC | NP_000248.2:p.Ser1065GlnfsTer8 | |
| XR_245686.3:n.3298_3299insC | ||
| XM_017021340.1:c.3192_3193insC | XP_016876829.1:p.Ser1065GlnfsTer8 | |
| NM_000257.4:c.3192_3193insC MANE Select | NP_000248.2:p.Ser1065GlnfsTer8 |