Linked Data
ClinVar Variation Id:
36882
dbSNP Id:
rs139158921
gnomAD:
19:55665329 G / GCTAGGC
MyVariant Identifiers:
chr19:g.55665329_55665330insCTAGGC (hg19)
chr19:g.55153961_55153962insCTAGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153962_55153963insTAGGCC , CM000681.2:g.55153962_55153963insTAGGCC | GRCh38 |
| NC_000019.9:g.55665330_55665331insTAGGCC , CM000681.1:g.55665330_55665331insTAGGCC | GRCh37 |
| NC_000019.8:g.60357142_60357143insTAGGCC | NCBI36 |
| NG_007866.2:g.8771_8772insGCCTAG , LRG_432:g.8771_8772insGCCTAG | |
| NG_011829.2:g.277_278insGCCTAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.549+68_549+69insGCCTAG MANE Select | ENSP00000341838.5:p.= | |
| ENST00000665070.1:c.582+68_582+69insGCCTAG | ENSP00000499482.1:p.= | |
| ENST00000344887.9:c.549+68_549+69insGCCTAG | ENSP00000341838.5:p.= | |
| ENST00000585806.5:n.548+68_548+69insGCCTAG | ||
| ENST00000588882.1:c.474+68_474+69insGCCTAG | ENSP00000466729.1:p.= | |
| ENST00000589864.1:n.377+68_377+69insGCCTAG | ||
| NM_000363.4:c.549+68_549+69insGCCTAG , LRG_432t1:c.549+68_549+69insGCCTAG | NP_000354.4:p.= | |
| NM_000363.5:c.549+68_549+69insGCCTAG MANE Select | NP_000354.4:p.= |