Linked Data
dbSNP Id:
rs2112542094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111072275_111072277del , CM000667.2:g.111072275_111072277del | GRCh38 |
| NC_000005.9:g.110407973_110407975del , CM000667.1:g.110407973_110407975del | GRCh37 |
| NC_000005.8:g.110435872_110435874del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.171+214_171+216del MANE Select | ENSP00000339804.3:n.171+214_171+216del | |
| ENST00000344895.3:c.171+214_171+216del | ENSP00000339804.3:n.171+214_171+216del | |
| ENST00000420978.6:c.171+214_171+216del | ENSP00000399099.2:n.171+214_171+216del | |
| NM_033035.4:c.171+214_171+216del | NP_149024.1:n.171+214_171+216del | |
| NR_045089.1:n.1575+214_1575+216del | ||
| NM_033035.5:c.171+214_171+216del MANE Select | NP_149024.1:n.171+214_171+216del | |
| NR_045089.2:n.1593+214_1593+216del |