Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962841_19962842delinsAG , CM000670.2:g.19962841_19962842delinsAG | GRCh38 |
| NC_000008.10:g.19820352_19820353delinsAG , CM000670.1:g.19820352_19820353delinsAG | GRCh37 |
| NC_000008.9:g.19864632_19864633delinsAG | NCBI36 |
| NG_008855.1:g.28771_28772delinsAG | |
| NG_008855.2:g.66125_66126delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+622_1427+623delinsAG MANE Select | ENSP00000497642.1:n.1427+622_1427+623deli... | |
| ENST00000650478.1:c.367+622_367+623delinsAG | ENSP00000497560.1:n.367+622_367+623delins... | |
| ENST00000311322.8:c.1427+622_1427+623delinsAG | ENSP00000309757.6:n.1427+622_1427+623deli... | |
| NM_000237.2:c.1427+622_1427+623delinsAG | NP_000228.1:n.1427+622_1427+623delinsAG | |
| NM_000237.3:c.1427+622_1427+623delinsAG MANE Select | NP_000228.1:n.1427+622_1427+623delinsAG |