Linked Data
ClinVar Variation Id:
408368
ClinVar RCV Id:
RCV000463503
dbSNP Id:
rs1060501949
gnomAD v2:
5-131945031-CAAAGA-C
gnomAD v3:
5-132609339-CAAAGA-C
gnomAD v4:
5-132609339-CAAAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609345_132609349del , CM000667.2:g.132609345_132609349del | GRCh38 |
| NC_000005.9:g.131945037_131945041del , CM000667.1:g.131945037_131945041del | GRCh37 |
| NC_000005.8:g.131972936_131972940del | NCBI36 |
| NG_021151.1:g.57422_57426del | |
| NG_021151.2:g.57369_57373del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2985_2989del MANE Select | ENSP00000368100.4:p.Glu995AspfsTer3 | |
| ENST00000638452.2:c.2688_2692del | ENSP00000492349.2:p.Glu896AspfsTer3 | |
| ENST00000638504.1:n.2593_2597del | ||
| ENST00000638568.2:c.2688_2692del | ENSP00000491158.2:p.Glu896AspfsTer3 | |
| ENST00000639899.1:n.3504_3508del | ||
| ENST00000640655.2:c.2688_2692del | ENSP00000491596.2:p.Glu896AspfsTer3 | |
| ENST00000651723.1:c.*3068_*3072del | ENSP00000498237.1:n.*3068_*3072del | |
| ENST00000378823.7:c.2985_2989del | ENSP00000368100.4:p.Glu995AspfsTer3 | |
| ENST00000533482.5:c.*2611_*2615del | ENSP00000431225.1:n.*2611_*2615del | |
| NM_005732.3:c.2985_2989del | NP_005723.2:p.Glu995AspfsTer3 | |
| NM_005732.4:c.2985_2989del MANE Select | NP_005723.2:p.Glu995AspfsTer3 |