Linked Data
dbSNP Id:
rs1567734810
MyVariant Identifiers:
chr17:g.27822747_27822748insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495729_29495730insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG , CM000679.2:g.29495729_29495730insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | GRCh38 |
| NC_000017.10:g.27822747_27822748insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG , CM000679.1:g.27822747_27822748insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | GRCh37 |
| NC_000017.9:g.24846873_24846874insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG MANE Select | ENSP00000261716.3:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTT... | |
| ENST00000261716.7:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | ENSP00000261716.3:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTT... | |
| ENST00000536202.1:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | ENSP00000438819.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTT... | |
| ENST00000577583.1:n.847+2_847+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | ||
| NM_020791.2:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | NP_065842.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGT... | |
| NM_025142.1:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | NP_079418.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGT... | |
| XM_011525060.1:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | XP_011523362.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAAT... | |
| XM_011525060.2:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG | XP_011523362.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAAT... | |
| NM_020791.4:c.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGTGTTGG MANE Select | NP_065842.1:n.999+2_999+3insCATGGTGTTGGCCGGACAGGAACAGTTAATAGT... |