Linked Data
gnomAD v4:
20-57565474-T-TGTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565475_57565478dup , CM000682.2:g.57565475_57565478dup | GRCh38 |
| NC_000020.10:g.56140531_56140534dup , CM000682.1:g.56140531_56140534dup | GRCh37 |
| NC_000020.9:g.55573937_55573940dup | NCBI36 |
| NG_008205.1:g.9395_9398dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1540_1543dup MANE Select | ENSP00000319814.4:p.Asn515SerfsTer? | |
| ENST00000319441.5:c.1540_1543dup | ENSP00000319814.4:p.Asn515SerfsTer? | |
| ENST00000467047.1:n.4182_4185dup | ||
| NM_002591.3:c.1540_1543dup | NP_002582.3:p.Asn515SerfsTer? | |
| XM_011528839.1:c.1144_1147dup | XP_011527141.1:p.Asn383SerfsTer? | |
| XM_024451888.1:c.1144_1147dup | XP_024307656.1:p.Asn383SerfsTer? | |
| NM_002591.4:c.1540_1543dup MANE Select | NP_002582.3:p.Asn515SerfsTer? |