Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962807_19962810delinsAAAC , CM000670.2:g.19962807_19962810delinsAAAC | GRCh38 |
| NC_000008.10:g.19820318_19820321delinsAAAC , CM000670.1:g.19820318_19820321delinsAAAC | GRCh37 |
| NC_000008.9:g.19864598_19864601delinsAAAC | NCBI36 |
| NG_008855.1:g.28737_28740delinsAAAC | |
| NG_008855.2:g.66091_66094delinsAAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+588_1427+591delinsAAAC MANE Select | ENSP00000497642.1:n.1427+588_1427+591deli... | |
| ENST00000650478.1:c.367+588_367+591delinsAAAC | ENSP00000497560.1:n.367+588_367+591delins... | |
| ENST00000311322.8:c.1427+588_1427+591delinsAAAC | ENSP00000309757.6:n.1427+588_1427+591deli... | |
| NM_000237.2:c.1427+588_1427+591delinsAAAC | NP_000228.1:n.1427+588_1427+591delinsAAAC... | |
| NM_000237.3:c.1427+588_1427+591delinsAAAC MANE Select | NP_000228.1:n.1427+588_1427+591delinsAAAC... |