Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994512_178994513insACA , CM000667.2:g.178994512_178994513insACA | GRCh38 |
| NC_000005.9:g.178421513_178421514insACA , CM000667.1:g.178421513_178421514insACA | GRCh37 |
| NC_000005.8:g.178354119_178354120insACA | NCBI36 |
| NG_008105.1:g.5611_5612insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.432_433insTGT MANE Select | ENSP00000430767.1:p.Arg144_Val145insCys | |
| ENST00000650031.1:c.432_433insTGT | ENSP00000497110.1:p.Arg144_Val145insCys | |
| ENST00000231188.9:c.432_433insTGT | ENSP00000231188.5:p.Arg144_Val145insCys | |
| ENST00000517717.1:c.432_433insTGT | ENSP00000430767.1:p.Arg144_Val145insCys | |
| NM_000843.3:c.432_433insTGT | NP_000834.2:p.Arg144_Val145insCys | |
| NM_000843.4:c.432_433insTGT MANE Select | NP_000834.2:p.Arg144_Val145insCys |