Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190480_204190481delinsGC , CM000663.2:g.204190480_204190481delinsGC | GRCh38 |
| NC_000001.10:g.204159608_204159609delinsGC , CM000663.1:g.204159608_204159609delinsGC | GRCh37 |
| NC_000001.9:g.202426231_202426232delinsGC | NCBI36 |
| NG_032151.1:g.11011_11012delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*3_*4delinsGC MANE Select | ENSP00000356162.4:n.*3_*4delinsGC | |
| ENST00000367194.4:c.*3_*4delinsGC | ENSP00000356162.4:n.*3_*4delinsGC | |
| ENST00000625357.1:c.416_417delinsGC | ENSP00000485957.1:p.Gly139= | |
| NM_002256.3:c.*3_*4delinsGC | NP_002247.3:n.*3_*4delinsGC | |
| XM_011509525.1:c.*3_*4delinsGC | XP_011507827.1:n.*3_*4delinsGC | |
| NM_002256.4:c.*3_*4delinsGC MANE Select | NP_002247.3:n.*3_*4delinsGC |