Linked Data
ClinVar Variation Id:
55694
ClinVar RCV Id:
RCV000577562
dbSNP Id:
rs397509316
PubMed:
PMID:19329713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094762_43094763insT , CM000679.2:g.43094762_43094763insT | GRCh38 |
| NC_000017.10:g.41246779_41246780insT , CM000679.1:g.41246779_41246780insT | GRCh37 |
| NC_000017.9:g.38500305_38500306insT | NCBI36 |
| NG_005905.2:g.123221_123222insA , LRG_292:g.123221_123222insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.832_833insA | ||
| ENST00000461574.2:c.768_769insA | ENSP00000417241.2:p.His257ThrfsTer8 | |
| ENST00000470026.6:c.768_769insA | ENSP00000419274.2:p.His257ThrfsTer8 | |
| ENST00000473961.6:c.642_643insA | ENSP00000420201.2:p.His215ThrfsTer8 | |
| ENST00000476777.6:c.765_766insA | ENSP00000417554.2:p.His256ThrfsTer8 | |
| ENST00000477152.6:c.690_691insA | ENSP00000419988.2:p.His231ThrfsTer8 | |
| ENST00000478531.6:c.765_766insA | ENSP00000420412.2:p.His256ThrfsTer8 | |
| ENST00000489037.2:c.690_691insA | ENSP00000420781.2:p.His231ThrfsTer8 | |
| ENST00000493919.6:c.627_628insA | ENSP00000418819.2:p.His210ThrfsTer8 | |
| ENST00000494123.6:c.768_769insA | ENSP00000419103.2:p.His257ThrfsTer8 | |
| ENST00000497488.2:c.-121_-120insA | ENSP00000418986.2:n.-121_-120insA | |
| ENST00000618469.2:c.768_769insA | ENSP00000478114.2:p.His257ThrfsTer8 | |
| ENST00000634433.2:c.645_646insA | ENSP00000489431.2:p.His216ThrfsTer8 | |
| ENST00000644379.2:c.768_769insA | ENSP00000496570.2:p.His257ThrfsTer8 | |
| ENST00000644555.2:c.627_628insA | ENSP00000494614.2:p.His210ThrfsTer8 | |
| ENST00000652672.2:c.627_628insA | ENSP00000498906.2:p.His210ThrfsTer8 | |
| ENST00000484087.6:c.645_646insA | ENSP00000419481.2:p.His216ThrfsTer8 | |
| ENST00000700182.1:c.687_688insA | ENSP00000514849.1:p.His230ThrfsTer8 | |
| ENST00000700183.1:c.*776_*777insA | ENSP00000514850.1:n.*776_*777insA | |
| ENST00000357654.9:c.768_769insA MANE Select | ENSP00000350283.3:p.His257ThrfsTer8 | |
| ENST00000471181.7:c.768_769insA | ENSP00000418960.2:p.His257ThrfsTer8 | |
| ENST00000642945.1:c.*642_*643insA | ENSP00000495897.1:n.*642_*643insA | |
| ENST00000652672.1:c.627_628insA | ENSP00000498906.1:p.His210ThrfsTer8 | |
| ENST00000352993.7:c.670+1083_670+1084insA | ENSP00000312236.5:n.670+1083_670+1084insA... | |
| ENST00000354071.7:c.768_769insA | ENSP00000326002.7:p.His257ThrfsTer8 | |
| ENST00000357654.7:c.768_769insA | ENSP00000350283.3:p.His257ThrfsTer8 | |
| ENST00000412061.3:c.119_120insA | ||
| ENST00000461221.5:c.*551_*552insA | ENSP00000418548.1:n.*551_*552insA | |
| ENST00000468300.5:c.768_769insA | ENSP00000417148.1:p.His257ThrfsTer8 | |
| ENST00000470026.5:c.768_769insA | ENSP00000419274.1:p.His257ThrfsTer8 | |
| ENST00000471181.6:c.768_769insA | ENSP00000418960.2:p.His257ThrfsTer8 | |
| ENST00000473961.5:c.365_366insA | ||
| ENST00000477152.5:c.690_691insA | ENSP00000419988.1:p.His231ThrfsTer8 | |
| ENST00000478531.5:c.765_766insA | ENSP00000420412.1:p.His256ThrfsTer8 | |
| ENST00000484087.5:c.390_391insA | ENSP00000419481.1:p.His131ThrfsTer8 | |
| ENST00000487825.5:c.393_394insA | ENSP00000418212.1:p.His132ThrfsTer8 | |
| ENST00000491747.6:c.768_769insA | ENSP00000420705.2:p.His257ThrfsTer8 | |
| ENST00000492859.5:c.*704_*705insA | ENSP00000420253.1:n.*704_*705insA | |
| ENST00000493795.5:c.627_628insA | ENSP00000418775.1:p.His210ThrfsTer8 | |
| ENST00000493919.5:c.627_628insA | ENSP00000418819.1:p.His210ThrfsTer8 | |
| ENST00000494123.5:c.768_769insA | ENSP00000419103.1:p.His257ThrfsTer8 | |
| ENST00000497488.1:c.-121_-120insA | ENSP00000418986.1:n.-121_-120insA | |
| ENST00000586385.5:c.4+30419_4+30420insA | ENSP00000465818.1:n.4+30419_4+30420insA | |
| ENST00000591534.5:c.-43-20242_-43-20241insA | ENSP00000467329.1:n.-43-20242_-43-20241in... | |
| ENST00000591849.5:c.-99+30508_-99+30509insA | ENSP00000465347.1:n.-99+30508_-99+30509in... | |
| ENST00000634433.1:c.645_646insA | ENSP00000489431.1:p.His216ThrfsTer8 | |
| NM_007294.3:c.768_769insA , LRG_292t1:c.768_769insA | NP_009225.1:p.His257ThrfsTer8 | |
| NM_007297.3:c.627_628insA | NP_009228.2:p.His210ThrfsTer8 | |
| NM_007298.3:c.768_769insA | NP_009229.2:p.His257ThrfsTer8 | |
| NM_007299.3:c.768_769insA | NP_009230.2:p.His257ThrfsTer8 | |
| NM_007300.3:c.768_769insA | NP_009231.2:p.His257ThrfsTer8 | |
| NR_027676.1:n.904_905insA | ||
| NM_007294.4:c.768_769insA MANE Select | NP_009225.1:p.His257ThrfsTer8 | |
| NM_007297.4:c.627_628insA | NP_009228.2:p.His210ThrfsTer8 | |
| NM_007299.4:c.768_769insA | NP_009230.2:p.His257ThrfsTer8 | |
| NM_007300.4:c.768_769insA | NP_009231.2:p.His257ThrfsTer8 | |
| NR_027676.2:n.945_946insA |