Linked Data
ClinVar Variation Id:
375659
dbSNP Id:
rs1799752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT , CM000679.2:g.63488543_63488544insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | GRCh38 |
| NC_000017.10:g.61565904_61565905insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT , CM000679.1:g.61565904_61565905insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | GRCh37 |
| NC_000017.9:g.58919636_58919637insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NCBI36 |
| NG_011648.1:g.16471_16472insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT MANE Select | ENSP00000290866.4:n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGT... | |
| ENST00000290863.10:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000290863.6:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCT... | |
| ENST00000290866.9:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000290866.4:n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGT... | |
| ENST00000413513.7:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000392247.3:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCT... | |
| ENST00000428043.5:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000397593.2:n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGT... | |
| ENST00000577647.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000464149.1:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCT... | |
| ENST00000578839.5:c.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000462110.2:n.*376-105_*376-104insTTTTTTTTTTTGAGACGGAGT... | |
| ENST00000579204.1:c.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000464629.1:n.487-27_487-26insTTTTTTTTTTTGAGACGGAGTCTCG... | |
| ENST00000579314.5:c.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000462599.1:n.584-27_584-26insTTTTTTTTTTTGAGACGGAGTCTCG... | |
| ENST00000582005.5:c.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000462002.1:n.*226-105_*226-104insTTTTTTTTTTTGAGACGGAGT... | |
| ENST00000582761.1:c.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ENSP00000462909.1:n.74-105_74-104insTTTTTTTTTTTGAGACGGAGTCTCG... | |
| ENST00000584865.5:n.252-105_252-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | ||
| NM_000789.3:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_000780.1:n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCT... | |
| NM_001178057.1:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_001171528.1:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGC... | |
| NM_152830.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_690043.1:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCT... | |
| XM_005257110.1:c.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | XP_005257167.1:n.1757-105_1757-104insTTTTTTTTTTTGAGACGGAGTCTC... | |
| XM_006721737.2:c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | XP_006721800.2:n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGC... | |
| XM_006721737.3:c.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | XP_006721800.2:n.644-105_644-104insTTTTTTTTTTTGAGACGGAGTCTCGC... | |
| NM_000789.4:c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT MANE Select | NP_000780.1:n.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCT... | |
| NM_001178057.2:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_001171528.1:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGC... | |
| NM_152830.3:c.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_690043.1:n.584-105_584-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCT... | |
| NM_001382700.1:c.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_001369629.1:n.1739-105_1739-104insTTTTTTTTTTTGAGACGGAGTCTC... | |
| NM_001382701.1:c.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_001369630.1:n.1454-105_1454-104insTTTTTTTTTTTGAGACGGAGTCTC... | |
| NM_001382702.1:c.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | NP_001369631.1:n.236-105_236-104insTTTTTTTTTTTGAGACGGAGTCTCGC... | |
| NR_168483.1:n.606-27_606-26insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT |