Linked Data
ClinVar Variation Id:
557197
ClinVar RCV Id:
RCV000673305
dbSNP Id:
rs1555306172
MyVariant Identifiers:
chr14:g.24259191_24259192insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259192_24259193insAG , CM000676.2:g.24259192_24259193insAG | GRCh38 |
| NC_000014.8:g.24728398_24728399insAG , CM000676.1:g.24728398_24728399insAG | GRCh37 |
| NC_000014.7:g.23798238_23798239insAG | NCBI36 |
| NG_007150.1:g.8975_8976insTC | |
| NG_007150.2:g.8975_8976insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1042_1043insTC MANE Select | ENSP00000206765.6:p.Arg348LeufsTer? | |
| ENST00000206765.10:c.1042_1043insTC | ENSP00000206765.6:p.Arg348LeufsTer? | |
| ENST00000544573.5:c.-28-804_-28-803insTC | ENSP00000439446.1:n.-28-804_-28-803insTC | |
| ENST00000559136.1:c.115_116insTC | ENSP00000453337.1:p.Arg39LeufsTer? | |
| NM_000359.2:c.1042_1043insTC | NP_000350.1:p.Arg348LeufsTer? | |
| NM_000359.3:c.1042_1043insTC MANE Select | NP_000350.1:p.Arg348LeufsTer? |