Linked Data
gnomAD v3:
19-1106478-G-GCCCCTGGTAGGTCCTCTCTAGGGAC
gnomAD v4:
19-1106478-G-GCCCCTGGTAGGTCCTCTCTAGGGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106481_1106482insCTGGTAGGTCCTCTCTAGGGACCCC , CM000681.2:g.1106481_1106482insCTGGTAGGTCCTCTCTAGGGACCCC | GRCh38 |
| NC_000019.9:g.1106480_1106481insCTGGTAGGTCCTCTCTAGGGACCCC , CM000681.1:g.1106480_1106481insCTGGTAGGTCCTCTCTAGGGACCCC | GRCh37 |
| NC_000019.8:g.1057480_1057481insCTGGTAGGTCCTCTCTAGGGACCCC | NCBI36 |
| NG_050621.1:g.7556_7557insCTGGTAGGTCCTCTCTAGGGACCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585362.7:c.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000473614.3:n.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000593032.6:c.541+22_541+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000465828.4:n.541+22_541+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000706713.1:c.555+22_555+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000516510.1:n.555+22_555+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000706714.1:c.541+22_541+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000516511.1:n.541+22_541+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000706715.1:c.177+22_177+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000516512.1:n.177+22_177+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000354171.13:c.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC MANE Select | ENSP00000346103.7:n.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000589115.6:c.536+22_536+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000466872.3:n.536+22_536+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000354171.12:c.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000346103.7:n.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000585480.1:c.294+22_294+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000467900.1:n.294+22_294+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000587648.5:c.441+22_441+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000468349.1:n.441+22_441+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000588919.5:c.502+22_502+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000464989.3:n.502+22_502+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000589115.5:c.536+22_536+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000466872.2:n.536+22_536+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000592940.2:n.932+22_932+23insCTGGTAGGTCCTCTCTAGGGACCCC | ||
| ENST00000611653.4:c.480+22_480+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000483655.1:n.480+22_480+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000616066.4:c.558+22_558+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000485000.1:n.558+22_558+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| ENST00000622390.4:c.669+22_669+23insCTGGTAGGTCCTCTCTAGGGACCCC | ENSP00000477503.1:n.669+22_669+23insCTGGTAGGTCCTCTCTAGGGACCCC... | |
| NM_001039847.2:c.583+22_583+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001034936.1:n.583+22_583+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_001039848.2:c.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001034937.1:n.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_002085.4:c.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_002076.2:n.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_001039848.3:c.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001034937.1:n.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_001039847.3:c.583+22_583+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001034936.1:n.583+22_583+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_001039848.4:c.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001034937.1:n.672+22_672+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_001367832.1:c.480+22_480+23insCTGGTAGGTCCTCTCTAGGGACCCC | NP_001354761.1:n.480+22_480+23insCTGGTAGGTCCTCTCTAGGGACCCC | |
| NM_002085.5:c.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC MANE Select | NP_002076.2:n.561+22_561+23insCTGGTAGGTCCTCTCTAGGGACCCC |