Linked Data
dbSNP Id:
rs1568809240
gnomAD v2:
20-61981659-GCAA-G
gnomAD v4:
20-63350307-GCAA-G
MyVariant Identifiers:
chr20:g.61981660_61981662del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350308_63350310del , CM000682.2:g.63350308_63350310del | GRCh38 |
| NC_000020.10:g.61981660_61981662del , CM000682.1:g.61981660_61981662del | GRCh37 |
| NC_000020.9:g.61452104_61452106del | NCBI36 |
| NG_011931.1:g.16034_16036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1101_1103del MANE Select | ENSP00000359285.4:p.Cys368del | |
| ENST00000370263.8:c.1101_1103del | ENSP00000359285.4:p.Cys368del | |
| ENST00000463705.5:n.1749_1751del | ||
| ENST00000467563.3:n.1171_1173del | ||
| ENST00000498043.6:c.1125_1127del | ||
| ENST00000615287.4:c.888_890del | ENSP00000483388.1:p.Cys297del | |
| ENST00000627000.1:c.*790_*792del | ENSP00000486914.1:n.*790_*792del | |
| ENST00000630240.1:n.822_824del | ||
| NM_000744.6:c.1101_1103del | NP_000735.1:p.Cys368del | |
| NM_001256573.1:c.573_575del | NP_001243502.1:p.Cys192del | |
| NR_046317.1:n.1357_1359del | ||
| XM_011528524.1:c.888_890del | XP_011526826.1:p.Cys297del | |
| XM_017027625.2:c.573_575del | XP_016883114.1:p.Cys192del | |
| XM_024451822.1:c.573_575del | XP_024307590.1:p.Cys192del | |
| NM_001256573.2:c.573_575del | NP_001243502.1:p.Cys192del | |
| NR_046317.2:n.1310_1312del | ||
| NM_000744.7:c.1101_1103del MANE Select | NP_000735.1:p.Cys368del |