Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190413_204190414insCCCAACC , CM000663.2:g.204190413_204190414insCCCAACC | GRCh38 |
| NC_000001.10:g.204159541_204159542insCCCAACC , CM000663.1:g.204159541_204159542insCCCAACC | GRCh37 |
| NC_000001.9:g.202426164_202426165insCCCAACC | NCBI36 |
| NG_032151.1:g.11080_11081insTTGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*72_*73insTTGGGGG MANE Select | ENSP00000356162.4:n.*72_*73insTTGGGGG | |
| ENST00000367194.4:c.*72_*73insTTGGGGG | ENSP00000356162.4:n.*72_*73insTTGGGGG | |
| NM_002256.3:c.*72_*73insTTGGGGG | NP_002247.3:n.*72_*73insTTGGGGG | |
| XM_011509525.1:c.*72_*73insTTGGGGG | XP_011507827.1:n.*72_*73insTTGGGGG | |
| NM_002256.4:c.*72_*73insTTGGGGG MANE Select | NP_002247.3:n.*72_*73insTTGGGGG |