Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114716124_114716125delinsAC , CM000663.2:g.114716124_114716125delinsAC | GRCh38 |
| NC_000001.10:g.115258745_115258746delinsAC , CM000663.1:g.115258745_115258746delinsAC | GRCh37 |
| NC_000001.9:g.115060268_115060269delinsAC | NCBI36 |
| NG_007572.1:g.5770_5771delinsGT , LRG_92:g.5770_5771delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.36_37delinsGT MANE Select | ENSP00000358548.4:p.Gly13Cys | |
| ENST00000369535.4:c.36_37delinsGT | ENSP00000358548.4:p.Gly13Cys | |
| NM_002524.4:c.36_37delinsGT | NP_002515.1:p.Gly13Cys | |
| NM_002524.5:c.36_37delinsGT MANE Select | NP_002515.1:p.Gly13Cys |