Linked Data
gnomAD v4:
20-57562876-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562879_57562880del , CM000682.2:g.57562879_57562880del | GRCh38 |
| NC_000020.10:g.56137935_56137936del , CM000682.1:g.56137935_56137936del | GRCh37 |
| NC_000020.9:g.55571341_55571342del | NCBI36 |
| NG_008205.1:g.6799_6800del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.590_591del MANE Select | ENSP00000319814.4:p.Gly197ValfsTer27 | |
| ENST00000319441.5:c.590_591del | ENSP00000319814.4:p.Gly197ValfsTer27 | |
| ENST00000467047.1:n.1800_1801del | ||
| ENST00000470051.1:n.46_47del | ||
| ENST00000498194.1:n.532_533del | ||
| NM_002591.3:c.590_591del | NP_002582.3:p.Gly197ValfsTer27 | |
| XM_011528839.1:c.194_195del | XP_011527141.1:p.Gly65ValfsTer27 | |
| XM_024451888.1:c.194_195del | XP_024307656.1:p.Gly65ValfsTer27 | |
| NM_002591.4:c.590_591del MANE Select | NP_002582.3:p.Gly197ValfsTer27 |