Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117124_19117125delinsCG , CM000669.2:g.19117124_19117125delinsCG | GRCh38 |
| NC_000007.13:g.19156747_19156748delinsCG , CM000669.1:g.19156747_19156748delinsCG | GRCh37 |
| NC_000007.12:g.19123272_19123273delinsCG | NCBI36 |
| NG_008114.1:g.5548_5549delinsCG | |
| NG_008114.2:g.5548_5549delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.197_198delinsCG MANE Select | ENSP00000242261.5:p.Pro66= | |
| ENST00000242261.5:c.197_198delinsCG | ENSP00000242261.5:p.Pro66= | |
| NM_000474.3:c.197_198delinsCG | NP_000465.1:p.Pro66= | |
| XM_011515496.1:c.197_198delinsCG | XP_011513798.1:p.Pro66= | |
| NR_149001.1:n.548_549delinsCG | ||
| NM_000474.4:c.197_198delinsCG MANE Select | NP_000465.1:p.Pro66= | |
| NR_149001.2:n.512_513delinsCG |