Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72010702_72010703insAT , CM000674.2:g.72010702_72010703insAT | GRCh38 |
| NC_000012.11:g.72404482_72404483insAT , CM000674.1:g.72404482_72404483insAT | GRCh37 |
| NC_000012.10:g.70690749_70690750insAT | NCBI36 |
| NG_008279.1:g.76857_76858insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-11697_1069-11696insAT MANE Select | ENSP00000329093.3:n.1069-11697_1069-11696insAT | |
| ENST00000333850.3:c.1069-11697_1069-11696insAT | ENSP00000329093.3:n.1069-11697_1069-11696insAT | |
| NM_173353.3:c.1069-11697_1069-11696insAT | NP_775489.2:n.1069-11697_1069-11696insAT | |
| XM_011537899.1:c.475-11697_475-11696insAT | XP_011536201.1:n.475-11697_475-11696insAT | |
| NM_173353.4:c.1069-11697_1069-11696insAT MANE Select | NP_775489.2:n.1069-11697_1069-11696insAT |