Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028554_135028555insC , CM000667.2:g.135028554_135028555insC | GRCh38 |
| NC_000005.9:g.134364244_134364245insC , CM000667.1:g.134364244_134364245insC | GRCh37 |
| NC_000005.8:g.134392143_134392144insC | NCBI36 |
| NG_012114.1:g.10720_10721insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*224_*225insG MANE Select | ENSP00000265340.6:n.*224_*225insG | |
| ENST00000265340.11:c.*224_*225insG | ENSP00000265340.6:n.*224_*225insG | |
| ENST00000506438.5:c.*224_*225insG | ENSP00000427542.1:n.*224_*225insG | |
| NM_002653.4:c.*224_*225insG | NP_002644.4:n.*224_*225insG | |
| NM_002653.5:c.*224_*225insG MANE Select | NP_002644.4:n.*224_*225insG |