Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123695_46123697delinsATG , CM000666.2:g.46123695_46123697delinsATG | GRCh38 |
| NC_000004.11:g.46125712_46125714delinsATG , CM000666.1:g.46125712_46125714delinsATG | GRCh37 |
| NC_000004.10:g.45820469_45820471delinsATG | NCBI36 |
| NG_046964.1:g.5369_5371delinsCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+113_104+115delinsCAT MANE Select | ENSP00000295452.4:n.104+113_104+115delinsCAT | |
| ENST00000295452.4:c.104+113_104+115delinsCAT | ENSP00000295452.4:n.104+113_104+115delinsCAT | |
| NM_173536.3:c.104+113_104+115delinsCAT | NP_775807.2:n.104+113_104+115delinsCAT | |
| NM_173536.4:c.104+113_104+115delinsCAT MANE Select | NP_775807.2:n.104+113_104+115delinsCAT |