Linked Data
gnomAD v4:
16-89919802-T-TCCTGAGGGCCGGTTCTAAGGCTCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAG , CM000678.2:g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAG | GRCh38 |
| NC_000016.9:g.89986210_89986211insCCTGAGGGCCGGTTCTAAGGCTCAG , CM000678.1:g.89986210_89986211insCCTGAGGGCCGGTTCTAAGGCTCAG | GRCh37 |
| NC_000016.8:g.88513711_88513712insCCTGAGGGCCGGTTCTAAGGCTCAG | NCBI36 |
| NG_012026.1:g.6924_6925insCCTGAGGGCCGGTTCTAAGGCTCAG | |
| NG_027810.1:g.2794_2795insCCTGAGGGCCGGTTCTAAGGCTCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG MANE Select | ENSP00000451605.1:p.Tyr182SerfsTer2 | |
| ENST00000639847.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG | ENSP00000492011.1:p.Tyr182SerfsTer2 | |
| ENST00000555147.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG | ENSP00000451605.1:p.Tyr182SerfsTer2 | |
| ENST00000555427.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG | ENSP00000451760.1:p.Tyr182SerfsTer2 | |
| ENST00000556922.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG | ENSP00000451560.1:p.Tyr182SerfsTer2 | |
| NM_002386.3:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG | NP_002377.4:p.Tyr182SerfsTer2 | |
| NM_002386.4:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAG MANE Select | NP_002377.4:p.Tyr182SerfsTer2 |