Linked Data
ClinVar Variation Id:
55300
ClinVar RCV Id:
RCV000257685
dbSNP Id:
rs397509200
PubMed:
PMID:15146556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43071075_43071076insG , CM000679.2:g.43071075_43071076insG | GRCh38 |
| NC_000017.10:g.41223092_41223093insG , CM000679.1:g.41223092_41223093insG | GRCh37 |
| NC_000017.9:g.38476618_38476619insG | NCBI36 |
| NG_005905.2:g.146908_146909insC , LRG_292:g.146908_146909insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4835_4836insC | ENSP00000417241.2:p.Pro1613SerfsTer8 | |
| ENST00000470026.6:c.4838_4839insC | ENSP00000419274.2:p.Pro1614SerfsTer8 | |
| ENST00000473961.6:c.4712_4713insC | ENSP00000420201.2:p.Pro1572SerfsTer8 | |
| ENST00000476777.6:c.4832_4833insC | ENSP00000417554.2:p.Pro1612SerfsTer8 | |
| ENST00000477152.6:c.4760_4761insC | ENSP00000419988.2:p.Pro1588SerfsTer8 | |
| ENST00000478531.6:c.1526_1527insC | ENSP00000420412.2:p.Pro510SerfsTer8 | |
| ENST00000489037.2:c.4760_4761insC | ENSP00000420781.2:p.Pro1588SerfsTer8 | |
| ENST00000493919.6:c.1388_1389insC | ENSP00000418819.2:p.Pro464SerfsTer8 | |
| ENST00000494123.6:c.4838_4839insC | ENSP00000419103.2:p.Pro1614SerfsTer8 | |
| ENST00000497488.2:c.3950_3951insC | ENSP00000418986.2:p.Pro1318SerfsTer8 | |
| ENST00000618469.2:c.4838_4839insC | ENSP00000478114.2:p.Pro1614SerfsTer8 | |
| ENST00000634433.2:c.4715_4716insC | ENSP00000489431.2:p.Pro1573SerfsTer8 | |
| ENST00000644379.2:c.4904_4905insC | ENSP00000496570.2:p.Pro1636SerfsTer8 | |
| ENST00000644555.2:c.1388_1389insC | ENSP00000494614.2:p.Pro464SerfsTer8 | |
| ENST00000652672.2:c.4697_4698insC | ENSP00000498906.2:p.Pro1567SerfsTer8 | |
| ENST00000484087.6:c.1400_1401insC | ENSP00000419481.2:p.Pro468SerfsTer8 | |
| ENST00000700182.1:c.1445_1446insC | ENSP00000514849.1:p.Pro483SerfsTer8 | |
| ENST00000357654.9:c.4838_4839insC MANE Select | ENSP00000350283.3:p.Pro1614SerfsTer8 | |
| ENST00000471181.7:c.4901_4902insC | ENSP00000418960.2:p.Pro1635SerfsTer8 | |
| ENST00000644379.1:c.1225_1226insC | ||
| ENST00000352993.7:c.1412_1413insC | ENSP00000312236.5:p.Pro472SerfsTer8 | |
| ENST00000357654.7:c.4838_4839insC | ENSP00000350283.3:p.Pro1614SerfsTer8 | |
| ENST00000461221.5:c.*4621_*4622insC | ENSP00000418548.1:n.*4621_*4622insC | |
| ENST00000468300.5:c.1526_1527insC | ENSP00000417148.1:p.Pro510SerfsTer8 | |
| ENST00000471181.6:c.4901_4902insC | ENSP00000418960.2:p.Pro1635SerfsTer8 | |
| ENST00000478531.5:c.1526_1527insC | ENSP00000420412.1:p.Pro510SerfsTer8 | |
| ENST00000484087.5:c.1151_1152insC | ENSP00000419481.1:p.Pro385SerfsTer8 | |
| ENST00000491747.6:c.1526_1527insC | ENSP00000420705.2:p.Pro510SerfsTer8 | |
| ENST00000493795.5:c.4697_4698insC | ENSP00000418775.1:p.Pro1567SerfsTer8 | |
| ENST00000493919.5:c.1388_1389insC | ENSP00000418819.1:p.Pro464SerfsTer8 | |
| ENST00000586385.5:c.5-7125_5-7124insC | ENSP00000465818.1:n.5-7125_5-7124insC | |
| ENST00000591534.5:c.311_312insC | ENSP00000467329.1:p.Pro105SerfsTer8 | |
| ENST00000591849.5:c.-98-20886_-98-20885insC | ENSP00000465347.1:n.-98-20886_-98-20885in... | |
| NM_007294.3:c.4838_4839insC , LRG_292t1:c.4838_4839insC | NP_009225.1:p.Pro1614SerfsTer8 | |
| NM_007297.3:c.4697_4698insC | NP_009228.2:p.Pro1567SerfsTer8 | |
| NM_007298.3:c.1526_1527insC | NP_009229.2:p.Pro510SerfsTer8 | |
| NM_007299.3:c.1526_1527insC | NP_009230.2:p.Pro510SerfsTer8 | |
| NM_007300.3:c.4901_4902insC | NP_009231.2:p.Pro1635SerfsTer8 | |
| NR_027676.1:n.4974_4975insC | ||
| NM_007294.4:c.4838_4839insC MANE Select | NP_009225.1:p.Pro1614SerfsTer8 | |
| NM_007297.4:c.4697_4698insC | NP_009228.2:p.Pro1567SerfsTer8 | |
| NM_007299.4:c.1526_1527insC | NP_009230.2:p.Pro510SerfsTer8 | |
| NM_007300.4:c.4901_4902insC | NP_009231.2:p.Pro1635SerfsTer8 | |
| NR_027676.2:n.5015_5016insC |