Linked Data
ClinVar Variation Id:
280833
dbSNP Id:
rs759477396
ExAC:
6:151766461 TG / T
gnomAD v2:
6-151766461-TG-T
gnomAD v4:
6-151445326-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151445328del , CM000668.2:g.151445328del | GRCh38 |
| NC_000006.11:g.151766463del , CM000668.1:g.151766463del | GRCh37 |
| NC_000006.10:g.151808156del | NCBI36 |
| NG_033031.1:g.11855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644054.2:c.485del | ENSP00000496328.2:p.Pro162GlnfsTer5 | |
| ENST00000646926.2:c.485del | ENSP00000494215.2:p.Pro162GlnfsTer5 | |
| ENST00000682004.1:n.630del | ||
| ENST00000682299.1:c.485del | ENSP00000506811.1:p.Pro162GlnfsTer5 | |
| ENST00000682392.1:c.485del | ENSP00000508314.1:p.Pro162GlnfsTer5 | |
| ENST00000682641.1:c.485del | ENSP00000506793.1:p.Pro162GlnfsTer5 | |
| ENST00000682760.1:n.630del | ||
| ENST00000683439.1:n.630del | ||
| ENST00000683724.1:c.485del | ENSP00000507984.1:p.Pro162GlnfsTer5 | |
| ENST00000683740.1:n.630del | ||
| ENST00000684301.1:c.485del | ENSP00000507824.1:p.Pro162GlnfsTer5 | |
| ENST00000684658.1:n.630del | ||
| ENST00000684715.1:n.630del | ||
| ENST00000684765.1:c.485del | ENSP00000507910.1:p.Pro162GlnfsTer5 | |
| ENST00000444024.3:c.485del MANE Select | ENSP00000412708.2:p.Pro162GlnfsTer5 | |
| ENST00000491268.2:c.485del | ENSP00000494948.1:p.Pro162GlnfsTer5 | |
| ENST00000622845.5:c.-7+6689del | ENSP00000481280.1:n.-7+6689del | |
| ENST00000643564.1:n.558del | ||
| ENST00000644054.1:c.382del | ||
| ENST00000644711.1:c.485del | ENSP00000494106.1:p.Pro162GlnfsTer5 | |
| ENST00000645367.1:n.629del | ||
| ENST00000645895.1:n.576del | ||
| ENST00000645917.1:n.704del | ||
| ENST00000367303.8:c.485del | ENSP00000356272.4:p.Pro162GlnfsTer5 | |
| ENST00000444024.1:c.-7+6689del | ENSP00000412708.1:n.-7+6689del | |
| ENST00000491268.1:n.499del | ||
| ENST00000622845.4:c.-7+6689del | ENSP00000481280.1:n.-7+6689del | |
| NM_001271937.1:c.-7+6689del | NP_001258866.1:n.-7+6689del | |
| NM_017909.3:c.485del | NP_060379.2:p.Pro162GlnfsTer5 | |
| XR_942497.1:n.665del | ||
| XM_005267040.4:c.-156+6689del | XP_005267097.1:n.-156+6689del | |
| XM_017010988.2:c.-175del | XP_016866477.1:n.-175del | |
| XR_001743503.2:n.653del | ||
| XR_002956288.1:n.610del | ||
| NM_017909.4:c.485del MANE Select | NP_060379.2:p.Pro162GlnfsTer5 | |
| NM_001271937.2:c.-7+6689del | NP_001258866.1:n.-7+6689del |