Linked Data
ClinVar Variation Id:
98667
ClinVar RCV Id:
RCV000084970
dbSNP Id:
rs61755782
MyVariant Identifiers:
chr6:g.42689649_42689650insAGTA (hg19)
chr6:g.42721911_42721912insAGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721911_42721912insAGTA , CM000668.2:g.42721911_42721912insAGTA | GRCh38 |
| NC_000006.11:g.42689649_42689650insAGTA , CM000668.1:g.42689649_42689650insAGTA | GRCh37 |
| NC_000006.10:g.42797627_42797628insAGTA | NCBI36 |
| NG_009176.1:g.5709_5710insTACT | |
| NG_009176.2:g.5709_5710insTACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.423_424insTACT MANE Select | ENSP00000230381.5:p.Arg142TyrfsTer? | |
| ENST00000230381.6:c.423_424insTACT | ENSP00000230381.5:p.Arg142TyrfsTer? | |
| NM_000322.4:c.423_424insTACT | NP_000313.2:p.Arg142TyrfsTer? | |
| XR_427834.2:n.1078_1079insTACT | ||
| XR_926295.1:n.1078_1079insTACT | ||
| XR_427834.4:n.1128_1129insTACT | ||
| XR_926295.3:n.1128_1129insTACT | ||
| NM_000322.5:c.423_424insTACT MANE Select | NP_000313.2:p.Arg142TyrfsTer? |