UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2153688024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43067463_43067464insTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC , CM000679.2:g.43067463_43067464insTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC | GRCh38 |
| NC_000017.10:g.41219480_41219481insTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC , CM000679.1:g.41219480_41219481insTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC | GRCh37 |
| NC_000017.9:g.38473006_38473007insTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGC | NCBI36 |
| NG_005905.2:g.150522_150523insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC , LRG_292:g.150522_150523insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5071+146_5071+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000417241.2:n.5071+146_5071+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000470026.6:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000419274.2:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000473961.6:c.4948+146_4948+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000420201.2:n.4948+146_4948+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000476777.6:c.5068+146_5068+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000417554.2:n.5068+146_5068+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000477152.6:c.4996+146_4996+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000419988.2:n.4996+146_4996+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000478531.6:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000420412.2:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000489037.2:c.4996+146_4996+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000420781.2:n.4996+146_4996+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000493919.6:c.1624+146_1624+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418819.2:n.1624+146_1624+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000494123.6:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000419103.2:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000497488.2:c.4186+146_4186+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418986.2:n.4186+146_4186+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000618469.2:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000478114.2:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000634433.2:c.4951+146_4951+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000489431.2:n.4951+146_4951+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000644379.2:c.5140+146_5140+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000496570.2:n.5140+146_5140+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000644555.2:c.1624+146_1624+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000494614.2:n.1624+146_1624+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000652672.2:c.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000498906.2:n.4933+146_4933+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000484087.6:c.1636+146_1636+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000419481.2:n.1636+146_1636+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000357654.9:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC MANE Select | ENSP00000350283.3:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000471181.7:c.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418960.2:n.5137+146_5137+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000644379.1:c.1461+146_1461+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ||
| ENST00000352993.7:c.1648+146_1648+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000312236.5:n.1648+146_1648+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000357654.7:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000350283.3:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000461221.5:c.*4857+146_*4857+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418548.1:n.*4857+146_*4857+147insTAATTTTTTGTATTTTTAG... | |
| ENST00000468300.5:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000417148.1:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000471181.6:c.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418960.2:n.5137+146_5137+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000472490.1:n.373_374insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ||
| ENST00000478531.5:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000420412.1:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000484087.5:c.1387+146_1387+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000419481.1:n.1387+146_1387+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000491747.6:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000420705.2:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000493795.5:c.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418775.1:n.4933+146_4933+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000493919.5:c.1624+146_1624+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000418819.1:n.1624+146_1624+147insTAATTTTTTGTATTTTTAGTA... | |
| ENST00000586385.5:c.5-3511_5-3510insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000465818.1:n.5-3511_5-3510insTAATTTTTTGTATTTTTAGTAGAGA... | |
| ENST00000591534.5:c.547+146_547+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000467329.1:n.547+146_547+147insTAATTTTTTGTATTTTTAGTAGA... | |
| ENST00000591849.5:c.-98-17272_-98-17271insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ENSP00000465347.1:n.-98-17272_-98-17271insTAATTTTTTGTATTTTTAG... | |
| NM_007294.3:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC , LRG_292t1:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009225.1:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007297.3:c.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009228.2:n.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007298.3:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009229.2:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007299.3:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009230.2:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007300.3:c.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009231.2:n.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NR_027676.1:n.5210+146_5210+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | ||
| NM_007294.4:c.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC MANE Select | NP_009225.1:n.5074+146_5074+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007297.4:c.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009228.2:n.4933+146_4933+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007299.4:c.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009230.2:n.1762+146_1762+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NM_007300.4:c.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC | NP_009231.2:n.5137+146_5137+147insTAATTTTTTGTATTTTTAGTAGAGACA... | |
| NR_027676.2:n.5251+146_5251+147insTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGC |