Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739807_86739808insGAT , CM000670.2:g.86739807_86739808insGAT | GRCh38 |
| NC_000008.10:g.87752035_87752036insGAT , CM000670.1:g.87752035_87752036insGAT | GRCh37 |
| NC_000008.9:g.87821151_87821152insGAT | NCBI36 |
| NG_016980.1:g.8868_8869insATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-72_130-71insATC MANE Select | ENSP00000316605.5:n.130-72_130-71insATC | |
| ENST00000681746.1:c.130-72_130-71insATC | ENSP00000505959.1:n.130-72_130-71insATC | |
| ENST00000320005.5:c.130-72_130-71insATC | ENSP00000316605.5:n.130-72_130-71insATC | |
| ENST00000519777.1:n.112-72_112-71insATC | ||
| NM_019098.4:c.130-72_130-71insATC | NP_061971.3:n.130-72_130-71insATC | |
| NM_019098.5:c.130-72_130-71insATC MANE Select | NP_061971.3:n.130-72_130-71insATC |