Linked Data
ClinVar Variation Id:
420876
ClinVar RCV Id:
RCV000484921
dbSNP Id:
rs1064794760
MyVariant Identifiers:
chr9:g.135781268_135781269insGA (hg19)
chr9:g.132905881_132905882insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132905882_132905883insAG , CM000671.2:g.132905882_132905883insAG | GRCh38 |
| NC_000009.11:g.135781269_135781270insAG , CM000671.1:g.135781269_135781270insAG | GRCh37 |
| NC_000009.10:g.134771090_134771091insAG | NCBI36 |
| NG_012386.1:g.43752_43753insTC , LRG_486:g.43752_43753insTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475903.7:c.1693_1694insTC | ENSP00000496126.2:p.Pro565LeufsTer? | |
| ENST00000490179.4:c.1696_1697insTC | ENSP00000495533.2:p.Pro566LeufsTer? | |
| ENST00000642261.2:c.1696_1697insTC | ENSP00000494743.2:p.Pro566LeufsTer? | |
| ENST00000643275.2:c.1696_1697insTC | ENSP00000495598.2:p.Pro566LeufsTer? | |
| ENST00000643362.2:c.1309_1310insTC | ENSP00000496398.2:p.Pro437LeufsTer? | |
| ENST00000643625.2:c.1696_1697insTC | ENSP00000495546.2:p.Pro566LeufsTer? | |
| ENST00000643691.2:c.1333_1334insTC | ENSP00000494916.2:p.Pro445LeufsTer? | |
| ENST00000644184.2:c.1696_1697insTC | ENSP00000495428.2:p.Pro566LeufsTer? | |
| ENST00000645129.2:c.1540_1541insTC | ENSP00000493639.2:p.Pro514LeufsTer? | |
| ENST00000646440.2:c.1696_1697insTC | ENSP00000495830.2:p.Pro566LeufsTer? | |
| ENST00000298552.9:c.1696_1697insTC MANE Select | ENSP00000298552.3:p.Pro566LeufsTer? | |
| ENST00000642617.1:c.1693_1694insTC | ENSP00000493773.1:p.Pro565LeufsTer? | |
| ENST00000642627.1:c.1693_1694insTC | ENSP00000496772.1:p.Pro565LeufsTer? | |
| ENST00000642811.1:c.*1466_*1467insTC | ENSP00000495554.1:n.*1466_*1467insTC | |
| ENST00000643072.1:c.1543_1544insTC | ENSP00000496691.1:p.Pro515LeufsTer? | |
| ENST00000643275.1:c.214_215insTC | ENSP00000495598.1:p.Pro72LeufsTer? | |
| ENST00000643583.1:c.1696_1697insTC | ENSP00000494685.1:p.Pro566LeufsTer? | |
| ENST00000643875.1:c.1696_1697insTC | ENSP00000495158.1:p.Pro566LeufsTer? | |
| ENST00000644097.1:c.1693_1694insTC | ENSP00000494682.1:p.Pro565LeufsTer? | |
| ENST00000644184.1:c.433_434insTC | ENSP00000495428.1:p.Pro145LeufsTer? | |
| ENST00000644255.1:c.*1463_*1464insTC | ENSP00000493608.1:n.*1463_*1464insTC | |
| ENST00000644319.1:n.2071_2072insTC | ||
| ENST00000644882.1:n.651_652insTC | ||
| ENST00000645901.1:n.2547_2548insTC | ||
| ENST00000646391.1:c.*1466_*1467insTC | ENSP00000494104.1:n.*1466_*1467insTC | |
| ENST00000646625.1:c.1696_1697insTC | ENSP00000496263.1:p.Pro566LeufsTer? | |
| ENST00000647262.1:n.661_662insTC | ||
| ENST00000647279.1:c.*935_*936insTC | ENSP00000494502.1:n.*935_*936insTC | |
| ENST00000647506.1:n.2572_2573insTC | ||
| ENST00000647534.1:n.760_761insTC | ||
| ENST00000298552.7:c.1696_1697insTC | ENSP00000298552.3:p.Pro566LeufsTer? | |
| ENST00000440111.6:c.1696_1697insTC | ENSP00000394524.2:p.Pro566LeufsTer? | |
| ENST00000545250.5:c.1543_1544insTC | ENSP00000444017.1:p.Pro515LeufsTer? | |
| NM_000368.4:c.1696_1697insTC , LRG_486t1:c.1696_1697insTC | NP_000359.1:p.Pro566LeufsTer? | |
| NM_001162426.1:c.1693_1694insTC | NP_001155898.1:p.Pro565LeufsTer? | |
| NM_001162427.1:c.1543_1544insTC | NP_001155899.1:p.Pro515LeufsTer? | |
| XM_005272211.1:c.1696_1697insTC | XP_005272268.1:p.Pro566LeufsTer? | |
| XM_006717271.1:c.1696_1697insTC | XP_006717334.1:p.Pro566LeufsTer? | |
| XM_006717272.2:c.1696_1697insTC | XP_006717335.1:p.Pro566LeufsTer? | |
| XM_011518979.1:c.1696_1697insTC | XP_011517281.1:p.Pro566LeufsTer? | |
| NM_001362177.1:c.1333_1334insTC | NP_001349106.1:p.Pro445LeufsTer? | |
| XM_011518979.2:c.1696_1697insTC | XP_011517281.1:p.Pro566LeufsTer? | |
| XM_017015096.1:c.1696_1697insTC | XP_016870585.1:p.Pro566LeufsTer? | |
| XM_017015097.1:c.1696_1697insTC | XP_016870586.1:p.Pro566LeufsTer? | |
| XM_017015098.1:c.1693_1694insTC | XP_016870587.1:p.Pro565LeufsTer? | |
| XM_017015100.1:c.1333_1334insTC | XP_016870589.1:p.Pro445LeufsTer? | |
| XM_017015101.1:c.1330_1331insTC | XP_016870590.1:p.Pro444LeufsTer? | |
| NM_000368.5:c.1696_1697insTC MANE Select | NP_000359.1:p.Pro566LeufsTer? | |
| NM_001162426.2:c.1693_1694insTC | NP_001155898.1:p.Pro565LeufsTer? | |
| NM_001162427.2:c.1543_1544insTC | NP_001155899.1:p.Pro515LeufsTer? | |
| NM_001362177.2:c.1333_1334insTC | NP_001349106.1:p.Pro445LeufsTer? |