Linked Data
ClinVar Variation Id:
295204
dbSNP Id:
rs886045882
gnomAD v3:
1-209788200-T-TTG
gnomAD v4:
1-209788200-T-TTG
MyVariant Identifiers:
chr1:g.209961545_209961546insTG (hg19)
chr1:g.209788200_209788201insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788200_209788201insTG , CM000663.2:g.209788200_209788201insTG | GRCh38 |
| NC_000001.10:g.209961545_209961546insTG , CM000663.1:g.209961545_209961546insTG | GRCh37 |
| NC_000001.9:g.208028168_208028169insTG | NCBI36 |
| NG_007081.2:g.22934_22935insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1400+223_1400+224insCA | ENSP00000512426.1:n.1400+223_1400+224insCA | |
| ENST00000696134.1:c.*1050_*1051insCA | ENSP00000512427.1:n.*1050_*1051insCA | |
| ENST00000367021.8:c.*219_*220insCA MANE Select | ENSP00000355988.3:n.*219_*220insCA | |
| ENST00000367021.7:c.*219_*220insCA | ENSP00000355988.3:n.*219_*220insCA | |
| ENST00000542854.5:c.*219_*220insCA | ENSP00000440532.1:n.*219_*220insCA | |
| NM_001206696.1:c.*219_*220insCA | NP_001193625.1:n.*219_*220insCA | |
| NM_006147.3:c.*219_*220insCA | NP_006138.1:n.*219_*220insCA | |
| NM_006147.4:c.*219_*220insCA MANE Select | NP_006138.1:n.*219_*220insCA | |
| NM_001206696.2:c.*219_*220insCA | NP_001193625.1:n.*219_*220insCA |