Linked Data
ClinVar Variation Id:
1480700
ClinVar RCV Id:
RCV001994000
dbSNP Id:
rs867485612
gnomAD v2:
12-52201139-A-AC
gnomAD v4:
12-51807355-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51807355_51807356insC , CM000674.2:g.51807355_51807356insC | GRCh38 |
| NC_000012.11:g.52201139_52201140insC , CM000674.1:g.52201139_52201140insC | GRCh37 |
| NC_000012.10:g.50487406_50487407insC | NCBI36 |
| NG_021180.2:g.221120_221121insC | |
| NG_021180.3:g.222398_222399insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.5869_5870insC MANE Plus Clinical | ENSP00000346534.4:p.Lys1957ThrfsTer? | |
| ENST00000627620.5:c.5869_5870insC MANE Select | ENSP00000487583.2:p.Lys1957ThrfsTer? | |
| ENST00000662684.1:c.5869_5870insC | ENSP00000499636.1:p.Lys1957ThrfsTer? | |
| ENST00000668547.1:c.5746_5747insC | ENSP00000499691.1:p.Lys1916ThrfsTer? | |
| ENST00000354534.10:c.5869_5870insC | ENSP00000346534.4:p.Lys1957ThrfsTer? | |
| ENST00000355133.7:c.5746_5747insC | ENSP00000347255.4:p.Lys1916ThrfsTer? | |
| ENST00000545061.5:c.5746_5747insC | ENSP00000440360.1:p.Lys1916ThrfsTer? | |
| ENST00000599343.5:c.5902_5903insC | ENSP00000476447.3:p.Lys1968ThrfsTer? | |
| ENST00000627620.2:c.5869_5870insC | ENSP00000487583.1:p.Lys1957ThrfsTer? | |
| NM_001177984.2:c.5746_5747insC | NP_001171455.1:p.Lys1916ThrfsTer? | |
| NM_014191.3:c.5869_5870insC | NP_055006.1:p.Lys1957ThrfsTer? | |
| XM_006719556.2:c.5869_5870insC | XP_006719619.1:p.Lys1957ThrfsTer? | |
| XM_011538650.1:c.5869_5870insC | XP_011536952.1:p.Lys1957ThrfsTer? | |
| XM_011538651.1:c.5869_5870insC | XP_011536953.1:p.Lys1957ThrfsTer? | |
| NM_001330260.1:c.5869_5870insC | NP_001317189.1:p.Lys1957ThrfsTer? | |
| XM_006719556.4:c.5869_5870insC | XP_006719619.1:p.Lys1957ThrfsTer? | |
| XM_011538651.3:c.5869_5870insC | XP_011536953.1:p.Lys1957ThrfsTer? | |
| XM_017019794.2:c.5869_5870insC | XP_016875283.1:p.Lys1957ThrfsTer? | |
| XM_017019795.2:c.5746_5747insC | XP_016875284.1:p.Lys1916ThrfsTer? | |
| NM_001330260.2:c.5869_5870insC MANE Select | NP_001317189.1:p.Lys1957ThrfsTer? | |
| NM_001369788.1:c.5746_5747insC | NP_001356717.1:p.Lys1916ThrfsTer? | |
| NM_014191.4:c.5869_5870insC MANE Plus Clinical | NP_055006.1:p.Lys1957ThrfsTer? | |
| NM_001177984.3:c.5746_5747insC | NP_001171455.1:p.Lys1916ThrfsTer? |