Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071100_29071101insAGATC , CM000664.2:g.29071100_29071101insAGATC | GRCh38 |
| NC_000002.11:g.29293966_29293967insAGATC , CM000664.1:g.29293966_29293967insAGATC | GRCh37 |
| NC_000002.10:g.29147470_29147471insAGATC | NCBI36 |
| NG_021427.1:g.8161_8162insGATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3161_3162insGATCT MANE Select | ENSP00000332809.4:p.Lys1055IlefsTer? | |
| ENST00000331664.5:c.3161_3162insGATCT | ENSP00000332809.4:p.Lys1055IlefsTer? | |
| NM_001029883.2:c.3161_3162insGATCT | NP_001025054.1:p.Lys1055IlefsTer? | |
| XM_011532826.1:c.3161_3162insGATCT | XP_011531128.1:p.Lys1055IlefsTer? | |
| XR_939901.1:n.185+1933_185+1934insAGATC | ||
| XR_939902.1:n.173+1945_173+1946insAGATC | ||
| NM_001029883.3:c.3161_3162insGATCT MANE Select | NP_001025054.1:p.Lys1055IlefsTer? |