Linked Data
ClinVar Variation Id:
370364
ClinVar RCV Id:
RCV000410837
dbSNP Id:
rs778568717
ExAC:
3:165548028 TA / T
gnomAD v2:
3-165548028-TA-T
gnomAD v4:
3-165830240-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830243del , CM000665.2:g.165830243del | GRCh38 |
| NC_000003.11:g.165548031del , CM000665.1:g.165548031del | GRCh37 |
| NC_000003.10:g.167030725del | NCBI36 |
| NG_009031.1:g.12225del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.793del MANE Select | ENSP00000264381.3:p.Tyr265MetfsTer8 | |
| ENST00000264381.7:c.793del | ENSP00000264381.3:p.Tyr265MetfsTer8 | |
| ENST00000479451.5:c.107+7073del | ENSP00000418325.1:n.107+7073del | |
| ENST00000482958.1:c.793del | ENSP00000419804.1:p.Tyr265MetfsTer8 | |
| ENST00000488954.1:c.107+7073del | ENSP00000418504.1:n.107+7073del | |
| ENST00000497011.5:c.793del | ENSP00000419505.1:p.Tyr265MetfsTer8 | |
| NM_000055.2:c.793del | NP_000046.1:p.Tyr265MetfsTer8 | |
| XM_005247685.1:c.916del | XP_005247742.1:p.Tyr306MetfsTer8 | |
| NM_000055.3:c.793del | NP_000046.1:p.Tyr265MetfsTer8 | |
| NR_137635.1:n.159+7073del | ||
| NR_137636.1:n.960del | ||
| NM_000055.4:c.793del MANE Select | NP_000046.1:p.Tyr265MetfsTer8 | |
| NR_137635.2:n.110+7073del | ||
| NR_137636.2:n.911del |