Linked Data
ClinVar Variation Id:
7247
ClinVar RCV Id:
RCV000007669
dbSNP Id:
rs116840806
MyVariant Identifiers:
chr10:g.79795110_79795112delinsTACGGATAG (hg19)
chr10:g.78035352_78035354delinsTACGGATAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78035352_78035354delinsTACGGATAG , CM000672.2:g.78035352_78035354delinsTACGGATAG | GRCh38 |
| NC_000010.10:g.79795110_79795112delinsTACGGATAG , CM000672.1:g.79795110_79795112delinsTACGGATAG | GRCh37 |
| NC_000010.9:g.79465116_79465118delinsTACGGATAG | NCBI36 |
| NG_012633.1:g.6593_6595delinsTACGGATAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360830.9:c.4_6delinsTACGGATAG | ENSP00000354074.5:p.Asn2TyrfsTer3 | |
| ENST00000372360.9:c.4_6delinsTACGGATAG MANE Select | ENSP00000361435.4:p.Asn2TyrfsTer3 | |
| ENST00000440692.6:c.4_6delinsTACGGATAG | ENSP00000414321.1:p.Asn2TyrfsTer3 | |
| ENST00000464716.6:c.4_6delinsTACGGATAG | ENSP00000494231.1:p.Asn2TyrfsTer3 | |
| ENST00000465692.2:n.15_17delinsTACGGATAG | ||
| ENST00000466129.6:n.20_22delinsTACGGATAG | ||
| ENST00000475468.6:n.414_416delinsTACGGATAG | ||
| ENST00000476545.6:c.4_6delinsTACGGATAG | ENSP00000494169.1:p.Asn2TyrfsTer3 | |
| ENST00000478655.6:n.43_45delinsTACGGATAG | ||
| ENST00000485708.7:n.43_45delinsTACGGATAG | ||
| ENST00000613865.5:c.4_6delinsTACGGATAG | ENSP00000478869.2:p.Asn2TyrfsTer3 | |
| ENST00000645440.1:c.4_6delinsTACGGATAG | ENSP00000496738.1:p.Asn2TyrfsTer3 | |
| ENST00000645698.1:n.32_34delinsTACGGATAG | ||
| ENST00000646254.1:n.213_215delinsTACGGATAG | ||
| ENST00000360830.8:c.4_6delinsTACGGATAG | ENSP00000354074.4:p.Asn2TyrfsTer3 | |
| ENST00000372360.7:c.4_6delinsTACGGATAG | ENSP00000361435.3:p.Asn2TyrfsTer3 | |
| ENST00000435275.5:c.4_6delinsTACGGATAG | ENSP00000415549.1:p.Asn2TyrfsTer3 | |
| ENST00000440692.5:c.4_6delinsTACGGATAG | ENSP00000414321.1:p.Asn2TyrfsTer3 | |
| ENST00000464716.5:n.32_34delinsTACGGATAG | ||
| ENST00000465692.1:n.1_3delinsTACGGATAG | ||
| ENST00000466129.5:n.20_22delinsTACGGATAG | ||
| ENST00000475468.5:n.414_416delinsTACGGATAG | ||
| ENST00000476545.5:n.28_30delinsTACGGATAG | ||
| ENST00000478655.5:n.43_45delinsTACGGATAG | ||
| ENST00000482069.5:n.71_73delinsTACGGATAG | ||
| ENST00000485708.6:n.62_64delinsTACGGATAG | ||
| ENST00000613865.4:c.4_6delinsTACGGATAG | ENSP00000478869.1:p.Asn2TyrfsTer3 | |
| NM_001026.4:c.4_6delinsTACGGATAG | NP_001017.1:p.Asn2TyrfsTer3 | |
| NM_001142282.1:c.4_6delinsTACGGATAG | NP_001135754.1:p.Asn2TyrfsTer3 | |
| NM_001142283.1:c.4_6delinsTACGGATAG | NP_001135755.1:p.Asn2TyrfsTer3 | |
| NM_001142284.1:c.4_6delinsTACGGATAG | NP_001135756.1:p.Asn2TyrfsTer3 | |
| NM_001142285.1:c.4_6delinsTACGGATAG | NP_001135757.1:p.Asn2TyrfsTer3 | |
| NM_033022.3:c.4_6delinsTACGGATAG | NP_148982.1:p.Asn2TyrfsTer3 | |
| XM_011540034.1:c.157_159delinsTACGGATAG | XP_011538336.1:p.Asn53TyrfsTer3 | |
| XM_011540035.1:c.157_159delinsTACGGATAG | XP_011538337.1:p.Asn53TyrfsTer3 | |
| XM_011540036.1:c.157_159delinsTACGGATAG | XP_011538338.1:p.Asn53TyrfsTer3 | |
| XM_011540037.1:c.157_159delinsTACGGATAG | XP_011538339.1:p.Asn53TyrfsTer3 | |
| XM_011540038.1:c.157_159delinsTACGGATAG | XP_011538340.1:p.Asn53TyrfsTer3 | |
| NM_001142285.2:c.4_6delinsTACGGATAG | NP_001135757.1:p.Asn2TyrfsTer3 | |
| NM_033022.4:c.4_6delinsTACGGATAG MANE Select | NP_148982.1:p.Asn2TyrfsTer3 | |
| NM_001026.5:c.4_6delinsTACGGATAG | NP_001017.1:p.Asn2TyrfsTer3 | |
| NM_001142282.2:c.4_6delinsTACGGATAG | NP_001135754.1:p.Asn2TyrfsTer3 | |
| NM_001142283.2:c.4_6delinsTACGGATAG | NP_001135755.1:p.Asn2TyrfsTer3 | |
| NM_001142284.2:c.4_6delinsTACGGATAG | NP_001135756.1:p.Asn2TyrfsTer3 |