Linked Data
ClinVar Variation Id:
200761
ClinVar RCV Id:
RCV001731505
dbSNP Id:
rs794728490
MyVariant Identifiers:
chr7:g.150648198_150648200delinsGTG (hg19)
chr7:g.150951110_150951112delinsGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951110_150951112delinsGTG , CM000669.2:g.150951110_150951112delinsGTG | GRCh38 |
| NC_000007.13:g.150648198_150648200delinsGTG , CM000669.1:g.150648198_150648200delinsGTG | GRCh37 |
| NC_000007.12:g.150279131_150279133delinsGTG | NCBI36 |
| NG_008916.1:g.31815_31817delinsCAC , LRG_288:g.31815_31817delinsCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1252_1254delinsCAC | ||
| ENST00000683359.1:n.78_80delinsCAC | ||
| ENST00000684241.1:n.2787_2789delinsCAC | ||
| ENST00000262186.10:c.1954_1956delinsCAC MANE Select | ENSP00000262186.5:p.Tyr652His | |
| ENST00000330883.9:c.934_936delinsCAC | ENSP00000328531.4:p.Tyr312His | |
| ENST00000262186.9:c.1954_1956delinsCAC | ENSP00000262186.5:p.Tyr652His | |
| ENST00000330883.8:c.934_936delinsCAC | ENSP00000328531.4:p.Tyr312His | |
| ENST00000430723.4:c.1606_1608delinsCAC | ENSP00000387657.4:p.Tyr536His | |
| ENST00000461280.1:n.1241_1243delinsCAC | ||
| ENST00000473610.5:n.1586_1588delinsCAC | ||
| ENST00000532957.5:n.2177_2179delinsCAC | ||
| NM_000238.3:c.1954_1956delinsCAC , LRG_288t1:c.1954_1956delinsCAC | NP_000229.1:p.Tyr652His | |
| NM_001204798.1:c.934_936delinsCAC | NP_001191727.1:p.Tyr312His | |
| NM_172056.2:c.1954_1956delinsCAC , LRG_288t2:c.1954_1956delinsCAC | NP_742053.1:p.Tyr652His | |
| NM_172057.2:c.934_936delinsCAC , LRG_288t3:c.934_936delinsCAC | NP_742054.1:p.Tyr312His | |
| XM_011516185.1:c.1654_1656delinsCAC | XP_011514487.1:p.Tyr552His | |
| XM_011516186.1:c.1954_1956delinsCAC | XP_011514488.1:p.Tyr652His | |
| XM_011516185.2:c.1654_1656delinsCAC | XP_011514487.1:p.Tyr552His | |
| XM_011516186.3:c.1954_1956delinsCAC | XP_011514488.1:p.Tyr652His | |
| XM_017012195.1:c.1804_1806delinsCAC | XP_016867684.1:p.Tyr602His | |
| XM_017012196.1:c.1777_1779delinsCAC | XP_016867685.1:p.Tyr593His | |
| NM_000238.4:c.1954_1956delinsCAC MANE Select | NP_000229.1:p.Tyr652His | |
| NM_001204798.2:c.934_936delinsCAC | NP_001191727.1:p.Tyr312His | |
| NM_172057.3:c.934_936delinsCAC | NP_742054.1:p.Tyr312His |