Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965905_37965906insAGGG , CM000670.2:g.37965905_37965906insAGGG | GRCh38 |
| NC_000008.10:g.37823423_37823424insAGGG , CM000670.1:g.37823423_37823424insAGGG | GRCh37 |
| NC_000008.9:g.37942580_37942581insAGGG | NCBI36 |
| NG_011936.1:g.5761_5762insCCCT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.564_565insCCCT MANE Select | NP_000016.1:p.Cys189ProfsTer? |
| ENST00000345060.5:c.564_565insCCCT MANE Select | ENSP00000343782.3:p.Cys189ProfsTer? |
| NM_000025.2:c.564_565insCCCT | NP_000016.1:p.Cys189ProfsTer? |
| ENST00000345060.4:c.564_565insCCCT | ENSP00000343782.3:p.Cys189ProfsTer? |
| ENST00000520341.2:n.692_693insCCCT | |
| ENST00000614635.1:c.564_565insCCCT | ENSP00000480325.1:p.Cys189ProfsTer? |
| ENST00000647937.1:c.48_49insCCCT | ENSP00000497740.1:p.Cys17ProfsTer? |