Linked Data
ClinVar Variation Id:
266465
dbSNP Id:
rs886040221
MyVariant Identifiers:
chr17:g.41234493_41234494delinsC (hg19)
chr17:g.43082476_43082477delinsC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082476_43082477delinsC , CM000679.2:g.43082476_43082477delinsC | GRCh38 |
| NC_000017.10:g.41234493_41234494delinsC , CM000679.1:g.41234493_41234494delinsC | GRCh37 |
| NC_000017.9:g.38488019_38488020delinsC | NCBI36 |
| NG_005905.2:g.135507_135508delinsG , LRG_292:g.135507_135508delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4284_4285delinsG | ENSP00000417241.2:p.Ser1428ArgfsTer6 | |
| ENST00000470026.6:c.4284_4285delinsG | ENSP00000419274.2:p.Ser1428ArgfsTer6 | |
| ENST00000473961.6:c.4158_4159delinsG | ENSP00000420201.2:p.Ser1386ArgfsTer6 | |
| ENST00000476777.6:c.4278_4279delinsG | ENSP00000417554.2:p.Ser1426ArgfsTer6 | |
| ENST00000477152.6:c.4206_4207delinsG | ENSP00000419988.2:p.Ser1402ArgfsTer6 | |
| ENST00000478531.6:c.972_973delinsG | ENSP00000420412.2:p.Ser324ArgfsTer6 | |
| ENST00000489037.2:c.4206_4207delinsG | ENSP00000420781.2:p.Ser1402ArgfsTer6 | |
| ENST00000493919.6:c.834_835delinsG | ENSP00000418819.2:p.Ser278ArgfsTer6 | |
| ENST00000494123.6:c.4284_4285delinsG | ENSP00000419103.2:p.Ser1428ArgfsTer6 | |
| ENST00000497488.2:c.3396_3397delinsG | ENSP00000418986.2:p.Ser1132ArgfsTer6 | |
| ENST00000618469.2:c.4284_4285delinsG | ENSP00000478114.2:p.Ser1428ArgfsTer6 | |
| ENST00000634433.2:c.4161_4162delinsG | ENSP00000489431.2:p.Ser1387ArgfsTer6 | |
| ENST00000644379.2:c.4284_4285delinsG | ENSP00000496570.2:p.Ser1428ArgfsTer6 | |
| ENST00000644555.2:c.834_835delinsG | ENSP00000494614.2:p.Ser278ArgfsTer6 | |
| ENST00000652672.2:c.4143_4144delinsG | ENSP00000498906.2:p.Ser1381ArgfsTer6 | |
| ENST00000484087.6:c.849_850delinsG | ENSP00000419481.2:p.Ser283ArgfsTer6 | |
| ENST00000700182.1:c.894_895delinsG | ENSP00000514849.1:p.Ser298ArgfsTer6 | |
| ENST00000357654.9:c.4284_4285delinsG MANE Select | ENSP00000350283.3:p.Ser1428ArgfsTer6 | |
| ENST00000471181.7:c.4284_4285delinsG | ENSP00000418960.2:p.Ser1428ArgfsTer6 | |
| ENST00000644379.1:c.605_606delinsG | ||
| ENST00000352993.7:c.858_859delinsG | ENSP00000312236.5:p.Ser286ArgfsTer6 | |
| ENST00000357654.7:c.4284_4285delinsG | ENSP00000350283.3:p.Ser1428ArgfsTer6 | |
| ENST00000461221.5:c.*4067_*4068delinsG | ENSP00000418548.1:n.*4067_*4068delinsG | |
| ENST00000461574.1:c.578_579delinsG | ||
| ENST00000468300.5:c.975_976delinsG | ENSP00000417148.1:p.Ser325ArgfsTer6 | |
| ENST00000471181.6:c.4284_4285delinsG | ENSP00000418960.2:p.Ser1428ArgfsTer6 | |
| ENST00000478531.5:c.972_973delinsG | ENSP00000420412.1:p.Ser324ArgfsTer6 | |
| ENST00000484087.5:c.597_598delinsG | ENSP00000419481.1:p.Ser199ArgfsTer6 | |
| ENST00000487825.5:c.600_601delinsG | ENSP00000418212.1:p.Ser200ArgfsTer6 | |
| ENST00000491747.6:c.975_976delinsG | ENSP00000420705.2:p.Ser325ArgfsTer6 | |
| ENST00000493795.5:c.4143_4144delinsG | ENSP00000418775.1:p.Ser1381ArgfsTer6 | |
| ENST00000493919.5:c.834_835delinsG | ENSP00000418819.1:p.Ser278ArgfsTer6 | |
| ENST00000586385.5:c.5-18526_5-18525delinsG | ENSP00000465818.1:n.5-18526_5-18525delinsG | |
| ENST00000591534.5:c.-43-7956_-43-7955delinsG | ENSP00000467329.1:n.-43-7956_-43-7955delinsG | |
| ENST00000591849.5:c.-98-32287_-98-32286delinsG | ENSP00000465347.1:n.-98-32287_-98-32286delinsG | |
| ENST00000621897.1:n.178_179delinsG | ||
| NM_007294.3:c.4284_4285delinsG , LRG_292t1:c.4284_4285delinsG | NP_009225.1:p.Ser1428ArgfsTer6 | |
| NM_007297.3:c.4143_4144delinsG | NP_009228.2:p.Ser1381ArgfsTer6 | |
| NM_007298.3:c.975_976delinsG | NP_009229.2:p.Ser325ArgfsTer6 | |
| NM_007299.3:c.975_976delinsG | NP_009230.2:p.Ser325ArgfsTer6 | |
| NM_007300.3:c.4284_4285delinsG | NP_009231.2:p.Ser1428ArgfsTer6 | |
| NR_027676.1:n.4420_4421delinsG | ||
| NM_007294.4:c.4284_4285delinsG MANE Select | NP_009225.1:p.Ser1428ArgfsTer6 | |
| NM_007297.4:c.4143_4144delinsG | NP_009228.2:p.Ser1381ArgfsTer6 | |
| NM_007299.4:c.975_976delinsG | NP_009230.2:p.Ser325ArgfsTer6 | |
| NM_007300.4:c.4284_4285delinsG | NP_009231.2:p.Ser1428ArgfsTer6 | |
| NR_027676.2:n.4461_4462delinsG |