Linked Data
ClinVar Variation Id:
30466
ClinVar RCV Id:
RCV000023420
dbSNP Id:
rs397515388
MyVariant Identifiers:
chr1:g.145508476_145508477insAGCG (hg19)
chr1:g.145926616_145926617insCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145926616_145926617insCGCT , CM000663.2:g.145926616_145926617insCGCT | GRCh38 |
| NC_000001.10:g.145508476_145508477insAGCG , CM000663.1:g.145508476_145508477insAGCG | GRCh37 |
| NC_000001.9:g.144219833_144219834insAGCG | NCBI36 |
| NG_032654.2:g.5920_5921insAGCG , LRG_574:g.5920_5921insAGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691760.1:c.207_208insAGCG | ENSP00000510519.1:p.Val70SerfsTer3 | |
| ENST00000692065.1:n.566_567insAGCG | ||
| ENST00000583313.7:c.207_208insAGCG MANE Select | ENSP00000463058.2:p.Val70SerfsTer3 | |
| ENST00000369307.4:c.204_205insAGCG | ENSP00000358313.3:p.Val69SerfsTer3 | |
| ENST00000484825.1:n.407_408insAGCG | ||
| ENST00000498663.5:n.597_598insAGCG | ||
| ENST00000583313.6:c.207_208insAGCG | ENSP00000463058.1:p.Val70SerfsTer3 | |
| ENST00000632040.1:c.2_3insAGCG | ||
| ENST00000632555.1:c.207_208insAGCG | ENSP00000488265.1:p.Val70SerfsTer3 | |
| ENST00000633781.1:c.2_3insAGCG | ||
| ENST00000634130.1:n.125_126insAGCG | ||
| NM_005105.4:c.207_208insAGCG , LRG_574t1:c.207_208insAGCG | NP_005096.1:p.Val70SerfsTer3 | |
| NM_005105.5:c.207_208insAGCG MANE Select | NP_005096.1:p.Val70SerfsTer3 |