Linked Data
gnomAD v3:
4-139874187-C-CAAGATTGATTTTTTTTAAAAAAA
gnomAD v4:
4-139874187-C-CAAGATTGATTTTTTTTAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874187_139874188insAAGATTGATTTTTTTTAAAAAAA , CM000666.2:g.139874187_139874188insAAGATTGATTTTTTTTAAAAAAA | GRCh38 |
| NC_000004.11:g.140795341_140795342insAAGATTGATTTTTTTTAAAAAAA , CM000666.1:g.140795341_140795342insAAGATTGATTTTTTTTAAAAAAA | GRCh37 |
| NC_000004.10:g.141014791_141014792insAAGATTGATTTTTTTTAAAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143521_111-143520insTTTTTTTAAAAAAAATCAATCTT | ||
| ENST00000509479.6:c.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT MANE Select | ENSP00000421180.1:n.2079+15169_2079+15170insTTTTTTTAAAAAAAATC... | |
| NM_018717.4:c.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT | NP_061187.2:n.2067+15169_2067+15170insTTTTTTTAAAAAAAATCAATCTT... | |
| NM_018717.5:c.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT MANE Select | NP_061187.3:n.2079+15169_2079+15170insTTTTTTTAAAAAAAATCAATCTT... |