Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966006_37966007insTA , CM000670.2:g.37966006_37966007insTA | GRCh38 |
| NC_000008.10:g.37823524_37823525insTA , CM000670.1:g.37823524_37823525insTA | GRCh37 |
| NC_000008.9:g.37942681_37942682insTA | NCBI36 |
| NG_011936.1:g.5660_5661insTA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.463_464insTA MANE Select | NP_000016.1:p.Arg155LeufsTer21 |
| ENST00000345060.5:c.463_464insTA MANE Select | ENSP00000343782.3:p.Arg155LeufsTer21 |
| NM_000025.2:c.463_464insTA | NP_000016.1:p.Arg155LeufsTer21 |
| ENST00000345060.4:c.463_464insTA | ENSP00000343782.3:p.Arg155LeufsTer21 |
| ENST00000520341.2:n.591_592insTA | |
| ENST00000614635.1:c.463_464insTA | ENSP00000480325.1:p.Arg155LeufsTer21 |