Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114716122_114716123delinsGA , CM000663.2:g.114716122_114716123delinsGA | GRCh38 |
| NC_000001.10:g.115258743_115258744delinsGA , CM000663.1:g.115258743_115258744delinsGA | GRCh37 |
| NC_000001.9:g.115060266_115060267delinsGA | NCBI36 |
| NG_007572.1:g.5772_5773delinsTC , LRG_92:g.5772_5773delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.38_39delinsTC MANE Select | ENSP00000358548.4:p.Gly13Val | |
| ENST00000369535.4:c.38_39delinsTC | ENSP00000358548.4:p.Gly13Val | |
| NM_002524.4:c.38_39delinsTC | NP_002515.1:p.Gly13Val | |
| NM_002524.5:c.38_39delinsTC MANE Select | NP_002515.1:p.Gly13Val |