Linked Data
gnomAD v3:
20-57562834-A-ACTGACGGTGCCTTCGTGCCCGCCGTTCAC
gnomAD v4:
20-57562834-A-ACTGACGGTGCCTTCGTGCCCGCCGTTCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562834_57562835insCTGACGGTGCCTTCGTGCCCGCCGTTCAC , CM000682.2:g.57562834_57562835insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | GRCh38 |
| NC_000020.10:g.56137890_56137891insCTGACGGTGCCTTCGTGCCCGCCGTTCAC , CM000682.1:g.56137890_56137891insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | GRCh37 |
| NC_000020.9:g.55571296_55571297insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | NCBI36 |
| NG_008205.1:g.6754_6755insCTGACGGTGCCTTCGTGCCCGCCGTTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.545_546insCTGACGGTGCCTTCGTGCCCGCCGTTCAC MANE Select | ENSP00000319814.4:p.Glu182AspfsTer2 | |
| ENST00000319441.5:c.545_546insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | ENSP00000319814.4:p.Glu182AspfsTer2 | |
| ENST00000467047.1:n.1755_1756insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | ||
| ENST00000470051.1:n.1_2insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | ||
| ENST00000498194.1:n.487_488insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | ||
| NM_002591.3:c.545_546insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | NP_002582.3:p.Glu182AspfsTer2 | |
| XM_011528839.1:c.149_150insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | XP_011527141.1:p.Glu50AspfsTer2 | |
| XM_024451888.1:c.149_150insCTGACGGTGCCTTCGTGCCCGCCGTTCAC | XP_024307656.1:p.Glu50AspfsTer2 | |
| NM_002591.4:c.545_546insCTGACGGTGCCTTCGTGCCCGCCGTTCAC MANE Select | NP_002582.3:p.Glu182AspfsTer2 |