Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199284_137199285delinsCG , CM000671.2:g.137199284_137199285delinsCG | GRCh38 |
| NC_000009.11:g.140093736_140093737delinsCG , CM000671.1:g.140093736_140093737delinsCG | GRCh37 |
| NC_000009.10:g.139213557_139213558delinsCG | NCBI36 |
| NG_027801.1:g.6427_6428delinsCG | |
| NG_027801.2:g.9909_9910delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1427_1428delinsCG MANE Select | ENSP00000387100.4:p.Pro476= | |
| ENST00000333046.8:c.821_822delinsCG | ENSP00000327617.4:p.Pro274= | |
| ENST00000409012.4:c.1427_1428delinsCG | ENSP00000387100.4:p.Pro476= | |
| ENST00000541945.1:n.90+4819_90+4820delinsCG | ||
| NM_001128228.2:c.1427_1428delinsCG | NP_001121700.2:p.Pro476= | |
| NM_001128228.3:c.1427_1428delinsCG MANE Select | NP_001121700.2:p.Pro476= |