Linked Data
ClinVar Variation Id:
426745
ClinVar RCV Id:
RCV000490129
dbSNP Id:
rs1085307776
gnomAD v2:
1-173808608-CT-C
gnomAD v4:
1-173839470-CT-C
MyVariant Identifiers:
chr1:g.173808612del (hg19)
chr1:g.173808609del (hg19)
chr1:g.173839474del (hg38)
chr1:g.173839471del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173839474del , CM000663.2:g.173839474del | GRCh38 |
| NC_000001.10:g.173808612del , CM000663.1:g.173808612del | GRCh37 |
| NC_000001.9:g.172075235del | NCBI36 |
| NG_016138.1:g.19816del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471476.2:c.*638del | ENSP00000497663.1:n.*638del | |
| ENST00000647645.1:c.948del | ENSP00000497450.1:p.Pro317LeufsTer3 | |
| ENST00000647730.1:c.*638del | ENSP00000497781.1:n.*638del | |
| ENST00000647788.1:c.*638del | ENSP00000497769.1:n.*638del | |
| ENST00000648271.1:c.*638del | ENSP00000497795.1:n.*638del | |
| ENST00000648458.1:c.948del | ENSP00000497874.1:p.Pro317LeufsTer3 | |
| ENST00000648807.1:c.948del | ENSP00000497472.1:p.Pro317LeufsTer3 | |
| ENST00000648960.1:c.948del | ENSP00000497091.1:p.Pro317LeufsTer3 | |
| ENST00000649067.1:c.948del | ENSP00000497052.1:p.Pro317LeufsTer3 | |
| ENST00000649106.1:c.227del | ||
| ENST00000649689.2:c.948del MANE Select | ENSP00000497569.1:p.Pro317LeufsTer3 | |
| ENST00000650297.1:n.1331del | ||
| ENST00000361951.4:c.948del | ENSP00000355086.4:p.Pro317LeufsTer3 | |
| NM_018122.4:c.948del | NP_060592.2:p.Pro317LeufsTer3 | |
| XM_006711427.2:c.948del | XP_006711490.1:p.Pro317LeufsTer3 | |
| XM_011509711.1:c.948del | XP_011508013.1:p.Pro317LeufsTer3 | |
| NM_001365212.1:c.948del | NP_001352141.1:p.Pro317LeufsTer3 | |
| NM_001365213.1:c.948del | NP_001352142.1:p.Pro317LeufsTer3 | |
| NM_018122.5:c.948del MANE Select | NP_060592.2:p.Pro317LeufsTer3 | |
| NM_001365213.2:c.948del | NP_001352142.1:p.Pro317LeufsTer3 |