Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058035_6058036delinsCG , CM000674.2:g.6058035_6058036delinsCG | GRCh38 |
| NC_000012.11:g.6167201_6167202delinsCG , CM000674.1:g.6167201_6167202delinsCG | GRCh37 |
| NC_000012.10:g.6037462_6037463delinsCG | NCBI36 |
| NG_009072.1:g.71635_71636delinsCG | |
| NG_009072.2:g.71635_71636delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1542_1543delinsCG MANE Select | ENSP00000261405.5:p.Pro514= | |
| ENST00000261405.9:c.1542_1543delinsCG | ENSP00000261405.5:p.Pro514= | |
| ENST00000538635.5:n.420+52479_420+52480delinsCG | ||
| NM_000552.3:c.1542_1543delinsCG | NP_000543.2:p.Pro514= | |
| NM_000552.4:c.1542_1543delinsCG | NP_000543.2:p.Pro514= | |
| NM_000552.5:c.1542_1543delinsCG MANE Select | NP_000543.3:p.Pro514= |