Linked Data
ClinVar Variation Id:
338789
ClinVar RCV Id:
RCV000264272
dbSNP Id:
rs10623012
gnomAD v2:
20-52770054-C-CAT
gnomAD v3:
20-54153515-C-CAT
gnomAD v4:
20-54153515-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54153515_54153516insAT , CM000682.2:g.54153515_54153516insAT | GRCh38 |
| NC_000020.10:g.52770054_52770055insAT , CM000682.1:g.52770054_52770055insAT | GRCh37 |
| NC_000020.9:g.52203461_52203462insAT | NCBI36 |
| NG_008334.1:g.25462_25463insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.*1256_*1257insAT MANE Select | ENSP00000216862.3:n.*1256_*1257insAT | |
| ENST00000216862.7:c.*1256_*1257insAT | ENSP00000216862.3:n.*1256_*1257insAT | |
| NM_000782.4:c.*1256_*1257insAT | NP_000773.2:n.*1256_*1257insAT | |
| NM_001128915.1:c.*1256_*1257insAT | NP_001122387.1:n.*1256_*1257insAT | |
| XM_005260304.5:c.*1428_*1429insAT | XP_005260361.1:n.*1428_*1429insAT | |
| XM_017027691.2:c.*1276_*1277insAT | XP_016883180.1:n.*1276_*1277insAT | |
| XM_017027692.2:c.*10+3653_*10+3654insAT | XP_016883181.1:n.*10+3653_*10+3654insAT | |
| XM_017027693.2:c.*1428_*1429insAT | XP_016883182.1:n.*1428_*1429insAT | |
| NM_000782.5:c.*1256_*1257insAT MANE Select | NP_000773.2:n.*1256_*1257insAT | |
| NM_001128915.2:c.*1256_*1257insAT | NP_001122387.1:n.*1256_*1257insAT |