Linked Data
ClinVar Variation Id:
446256
dbSNP Id:
rs1555740394
MyVariant Identifiers:
chr19:g.50098491_50098492insCCCACCA (hg19)
chr19:g.49595234_49595235insCCCACCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49595238_49595244dup , CM000681.2:g.49595238_49595244dup | GRCh38 |
| NC_000019.9:g.50098495_50098501dup , CM000681.1:g.50098495_50098501dup | GRCh37 |
| NC_000019.8:g.54790307_54790313dup | NCBI36 |
| NG_051202.1:g.9062_9068dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418929.7:c.903_909dup MANE Select | ENSP00000394510.1:p.Pro304ThrfsTer? | |
| ENST00000418929.6:c.903_909dup | ENSP00000394510.1:p.Pro304ThrfsTer? | |
| NM_020719.1:c.903_909dup | NP_065770.1:p.Pro304ThrfsTer? | |
| NM_020719.2:c.903_909dup | NP_065770.1:p.Pro304ThrfsTer? | |
| XR_002958340.1:n.1381_1387dup | ||
| NM_020719.3:c.903_909dup MANE Select | NP_065770.1:p.Pro304ThrfsTer? |