Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884614_13884615delinsGA , CM000680.2:g.13884614_13884615delinsGA | GRCh38 |
| NC_000018.9:g.13884613_13884614delinsGA , CM000680.1:g.13884613_13884614delinsGA | GRCh37 |
| NC_000018.8:g.13874613_13874614delinsGA | NCBI36 |
| NG_011819.1:g.35922_35923delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.*10_*11delinsTC MANE Select | ENSP00000333821.2:n.*10_*11delinsTC | |
| ENST00000327606.3:c.*10_*11delinsTC | ENSP00000333821.2:n.*10_*11delinsTC | |
| NM_000529.2:c.*10_*11delinsTC MANE Select | NP_000520.1:n.*10_*11delinsTC | |
| NM_001291911.1:c.*10_*11delinsTC | NP_001278840.1:n.*10_*11delinsTC | |
| XM_017025781.1:c.*10_*11delinsTC | XP_016881270.1:n.*10_*11delinsTC |