Linked Data
dbSNP Id:
rs751913563
ExAC:
11:2188073 CA / C
gnomAD v2:
11-2188073-CA-C
gnomAD v3:
11-2166843-CA-C
gnomAD v4:
11-2166843-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166844del , CM000673.2:g.2166844del | GRCh38 |
| NC_000011.9:g.2188074del , CM000673.1:g.2188074del | GRCh37 |
| NC_000011.8:g.2144650del | NCBI36 |
| NG_008128.1:g.9962del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.841+43del MANE Select | ENSP00000325951.4:n.841+43del | |
| ENST00000324155.8:c.*530+43del | ENSP00000325831.3:n.*530+43del | |
| ENST00000333684.9:c.696-295del | ENSP00000328814.6:n.696-295del | |
| ENST00000352909.7:c.841+43del | ENSP00000325951.3:n.841+43del | |
| ENST00000381168.7:c.*561+43del | ENSP00000370560.3:n.*561+43del | |
| ENST00000381175.5:c.922+43del | ENSP00000370567.1:n.922+43del | |
| ENST00000381178.5:c.934+43del | ENSP00000370571.1:n.934+43del | |
| ENST00000412076.1:c.136-295del | ||
| ENST00000416223.5:c.136-76del | ||
| ENST00000479437.5:n.390+43del | ||
| NM_000360.3:c.841+43del | NP_000351.2:n.841+43del | |
| NM_199292.2:c.934+43del | NP_954986.2:n.934+43del | |
| NM_199293.2:c.922+43del | NP_954987.2:n.922+43del | |
| XM_011520335.1:c.853+43del | XP_011518637.1:n.853+43del | |
| XM_011520335.2:c.853+43del | XP_011518637.1:n.853+43del | |
| NM_000360.4:c.841+43del MANE Select | NP_000351.2:n.841+43del | |
| NM_199292.3:c.934+43del | NP_954986.2:n.934+43del | |
| NM_199293.3:c.922+43del | NP_954987.2:n.922+43del |