Linked Data
dbSNP Id:
rs1732064559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139874104_139874106del , CM000666.2:g.139874104_139874106del | GRCh38 |
| NC_000004.11:g.140795258_140795260del , CM000666.1:g.140795258_140795260del | GRCh37 |
| NC_000004.10:g.141014708_141014710del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502696.1:c.111-143436_111-143434del | ||
| ENST00000509479.6:c.2079+15254_2079+15256del MANE Select | ENSP00000421180.1:n.2079+15254_2079+15256del | |
| NM_018717.4:c.2067+15254_2067+15256del | NP_061187.2:n.2067+15254_2067+15256del | |
| NM_018717.5:c.2079+15254_2079+15256del MANE Select | NP_061187.3:n.2079+15254_2079+15256del |