Linked Data
gnomAD v4:
16-89919801-C-CCTCCTGAGGGCCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919801_89919802insCTCCTGAGGGCCGG , CM000678.2:g.89919801_89919802insCTCCTGAGGGCCGG | GRCh38 |
| NC_000016.9:g.89986209_89986210insCTCCTGAGGGCCGG , CM000678.1:g.89986209_89986210insCTCCTGAGGGCCGG | GRCh37 |
| NC_000016.8:g.88513710_88513711insCTCCTGAGGGCCGG | NCBI36 |
| NG_012026.1:g.6923_6924insCTCCTGAGGGCCGG | |
| NG_027810.1:g.2793_2794insCTCCTGAGGGCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.543_544insCTCCTGAGGGCCGG MANE Select | ENSP00000451605.1:p.Tyr182LeufsTer? | |
| ENST00000639847.1:c.543_544insCTCCTGAGGGCCGG | ENSP00000492011.1:p.Tyr182LeufsTer? | |
| ENST00000555147.1:c.543_544insCTCCTGAGGGCCGG | ENSP00000451605.1:p.Tyr182LeufsTer? | |
| ENST00000555427.1:c.543_544insCTCCTGAGGGCCGG | ENSP00000451760.1:p.Tyr182LeufsTer? | |
| ENST00000556922.1:c.543_544insCTCCTGAGGGCCGG | ENSP00000451560.1:p.Tyr182LeufsTer? | |
| NM_002386.3:c.543_544insCTCCTGAGGGCCGG | NP_002377.4:p.Tyr182LeufsTer? | |
| NM_002386.4:c.543_544insCTCCTGAGGGCCGG MANE Select | NP_002377.4:p.Tyr182LeufsTer? |