Linked Data
ClinVar Variation Id:
21558
dbSNP Id:
rs199422144
ExAC:
1:197111746 GAAGAT / G
gnomAD v2:
1-197111746-GAAGAT-G
gnomAD v3:
1-197142616-GAAGAT-G
gnomAD v4:
1-197142616-GAAGAT-G
MyVariant Identifiers:
chr1:g.197111747_197111751del (hg19)
chr1:g.197142618_197142622del (hg38)
chr1:g.197142617_197142621del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142621_197142625del , CM000663.2:g.197142621_197142625del | GRCh38 |
| NC_000001.10:g.197111751_197111755del , CM000663.1:g.197111751_197111755del | GRCh37 |
| NC_000001.9:g.195378374_195378378del | NCBI36 |
| NG_015867.1:g.9074_9078del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.1631_1635del MANE Select | ENSP00000356379.4:p.Tyr544SerfsTer9 | |
| ENST00000679766.1:n.1848_1852del | ||
| ENST00000680265.1:c.1631_1635del | ENSP00000505384.1:p.Tyr544SerfsTer9 | |
| ENST00000680710.1:c.1631_1635del | ENSP00000506676.1:p.Tyr544SerfsTer9 | |
| ENST00000681879.1:c.1631_1635del | ENSP00000505363.1:p.Tyr544SerfsTer9 | |
| ENST00000294732.11:c.1631_1635del | ENSP00000294732.7:p.Tyr544SerfsTer9 | |
| ENST00000367409.8:c.1631_1635del | ENSP00000356379.4:p.Tyr544SerfsTer9 | |
| ENST00000612785.1:c.561+1070_561+1074del | ENSP00000479244.1:n.561+1070_561+1074del | |
| NM_001206846.1:c.1631_1635del | NP_001193775.1:p.Tyr544SerfsTer9 | |
| NM_018136.4:c.1631_1635del | NP_060606.3:p.Tyr544SerfsTer9 | |
| NM_018136.5:c.1631_1635del MANE Select | NP_060606.3:p.Tyr544SerfsTer9 | |
| NM_001206846.2:c.1631_1635del | NP_001193775.1:p.Tyr544SerfsTer9 |