Linked Data
dbSNP Id:
rs1439400473
gnomAD v2:
6-31937326-CT-C
gnomAD v3:
6-31969549-CT-C
gnomAD v4:
6-31969549-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969550del , CM000668.2:g.31969550del | GRCh38 |
| NC_000006.11:g.31937327del , CM000668.1:g.31937327del | GRCh37 |
| NC_000006.10:g.32045306del | NCBI36 |
| NG_032652.1:g.15747del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2624del | ENSP00000419905.1:n.*2624del | |
| ENST00000485349.6:n.4052del | ||
| ENST00000491994.2:c.*118del | ENSP00000417586.2:n.*118del | |
| ENST00000494058.6:n.3878del | ||
| ENST00000697831.1:c.3507del | ENSP00000513453.1:p.Glu1170ArgfsTer25 | |
| ENST00000697832.1:n.3729del | ||
| ENST00000697833.1:c.*524del | ENSP00000513454.1:n.*524del | |
| ENST00000697834.1:n.4294del | ||
| ENST00000697835.1:c.*3094del | ENSP00000513455.1:n.*3094del | |
| ENST00000697836.1:n.3930del | ||
| ENST00000697837.1:c.*692del | ENSP00000513456.1:n.*692del | |
| ENST00000697838.1:c.3441del | ENSP00000513457.1:p.Glu1148ArgfsTer25 | |
| ENST00000697839.1:n.4388del | ||
| ENST00000697840.1:c.3612del | ENSP00000513458.1:p.Glu1205ArgfsTer25 | |
| ENST00000697841.1:n.4487del | ||
| ENST00000697842.1:n.3831del | ||
| ENST00000375394.7:c.3576del MANE Select | ENSP00000364543.2:p.Glu1193ArgfsTer25 | |
| ENST00000375394.6:c.3576del | ENSP00000364543.2:p.Glu1193ArgfsTer25 | |
| ENST00000465703.5:n.4306del | ||
| ENST00000470453.1:n.418del | ||
| ENST00000471818.1:n.505del | ||
| ENST00000474839.5:c.*2948del | ENSP00000420470.1:n.*2948del | |
| ENST00000483553.5:c.1106del | ||
| ENST00000491994.1:c.665del | ||
| NM_006929.4:c.3576del | NP_008860.4:p.Glu1193ArgfsTer25 | |
| XR_926301.3:n.3592del | ||
| NM_006929.5:c.3576del MANE Select | NP_008860.4:p.Glu1193ArgfsTer25 |