Linked Data
ClinVar Variation Id:
370851
ClinVar RCV Id:
RCV000410812
dbSNP Id:
rs1057516814
MyVariant Identifiers:
chr13:g.77566306_77566307delinsG (hg19)
chr13:g.76992171_76992172delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992171_76992172delinsG , CM000675.2:g.76992171_76992172delinsG | GRCh38 |
| NC_000013.10:g.77566306_77566307delinsG , CM000675.1:g.77566306_77566307delinsG | GRCh37 |
| NC_000013.9:g.76464307_76464308delinsG | NCBI36 |
| NG_009064.1:g.5248_5249delinsG , LRG_692:g.5248_5249delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377453.9:c.73_74delinsG MANE Select | ENSP00000366673.5:p.Ser25AlafsTer? | |
| ENST00000485938.4:c.73_74delinsG | ENSP00000482959.3:p.Ser25AlafsTer? | |
| ENST00000616833.6:c.73_74delinsG | ENSP00000479547.3:p.Ser25AlafsTer? | |
| ENST00000635905.1:n.74_75delinsG | ||
| ENST00000635915.1:c.12_13delinsG | ||
| ENST00000635989.1:n.83_84delinsG | ||
| ENST00000636183.2:c.73_74delinsG | ENSP00000490181.2:p.Ser25AlafsTer? | |
| ENST00000636525.2:c.73_74delinsG | ENSP00000490078.2:p.Ser25AlafsTer? | |
| ENST00000636767.2:c.73_74delinsG | ENSP00000489855.2:p.Ser25AlafsTer? | |
| ENST00000636780.2:c.73_74delinsG | ENSP00000489809.2:p.Ser25AlafsTer? | |
| ENST00000637397.2:c.73_74delinsG | ENSP00000490422.2:p.Ser25AlafsTer? | |
| ENST00000637537.2:c.73_74delinsG | ENSP00000489711.2:p.Ser25AlafsTer? | |
| ENST00000638147.2:c.73_74delinsG | ENSP00000490953.2:p.Ser25AlafsTer? | |
| ENST00000377453.7:c.220_221delinsG | ENSP00000366673.3:p.Ser74AlafsTer? | |
| ENST00000485938.2:c.56_57delinsG | ||
| ENST00000616833.4:c.73_74delinsG | ENSP00000479547.1:p.Ser25AlafsTer? | |
| NM_006493.2:c.220_221delinsG , LRG_692t1:c.220_221delinsG | NP_006484.1:p.Ser74AlafsTer? | |
| XM_011534917.1:c.220_221delinsG | XP_011533219.1:p.Ser74AlafsTer? | |
| NM_001366624.1:c.73_74delinsG | NP_001353553.1:p.Ser25AlafsTer? | |
| NM_006493.3:c.73_74delinsG | NP_006484.2:p.Ser25AlafsTer? | |
| NM_001366624.2:c.73_74delinsG | NP_001353553.1:p.Ser25AlafsTer? | |
| NM_006493.4:c.73_74delinsG MANE Select | NP_006484.2:p.Ser25AlafsTer? |