Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652490_10652492delinsACT , CM000682.2:g.10652490_10652492delinsACT | GRCh38 |
| NC_000020.10:g.10633138_10633140delinsACT , CM000682.1:g.10633138_10633140delinsACT | GRCh37 |
| NC_000020.9:g.10581138_10581140delinsACT | NCBI36 |
| NG_007496.1:g.26555_26557delinsAGT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.862_864delinsAGT MANE Select | NP_000205.1:p.Trp288Ser |
| ENST00000254958.10:c.862_864delinsAGT MANE Select | ENSP00000254958.4:p.Trp288Ser |
| NM_000214.2:c.862_864delinsAGT | NP_000205.1:p.Trp288Ser |
| ENST00000254958.9:c.862_864delinsAGT | ENSP00000254958.4:p.Trp288Ser |
| ENST00000423891.6:n.728_730delinsAGT | |
| ENST00000617965.1:n.231_233delinsAGT | |
| ENST00000617965.2:n.231_233delinsAGT |