Linked Data
gnomAD v3:
4-139874184-G-GCAGGAGGAACAATCTTGTCAGA
gnomAD v4:
4-139874184-G-GCAGGAGGAACAATCTTGTCAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874184_139874185insCAGGAGGAACAATCTTGTCAGA , CM000666.2:g.139874184_139874185insCAGGAGGAACAATCTTGTCAGA | GRCh38 |
| NC_000004.11:g.140795338_140795339insCAGGAGGAACAATCTTGTCAGA , CM000666.1:g.140795338_140795339insCAGGAGGAACAATCTTGTCAGA | GRCh37 |
| NC_000004.10:g.141014788_141014789insCAGGAGGAACAATCTTGTCAGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143518_111-143517insTCTGACAAGATTGTTCCTCCTG | ||
| ENST00000509479.6:c.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG MANE Select | ENSP00000421180.1:n.2079+15172_2079+15173insTCTGACAAGATTGTTCC... | |
| NM_018717.4:c.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG | NP_061187.2:n.2067+15172_2067+15173insTCTGACAAGATTGTTCCTCCTG | |
| NM_018717.5:c.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG MANE Select | NP_061187.3:n.2079+15172_2079+15173insTCTGACAAGATTGTTCCTCCTG |