Linked Data
ClinVar Variation Id:
583363
ClinVar RCV Id:
RCV000707680
dbSNP Id:
rs1561647559
gnomAD v4:
5-132609339-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609341_132609342del , CM000667.2:g.132609341_132609342del | GRCh38 |
| NC_000005.9:g.131945033_131945034del , CM000667.1:g.131945033_131945034del | GRCh37 |
| NC_000005.8:g.131972932_131972933del | NCBI36 |
| NG_021151.1:g.57418_57419del | |
| NG_021151.2:g.57365_57366del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2981_2982del MANE Select | ENSP00000368100.4:p.Lys994ArgfsTer5 | |
| ENST00000638452.2:c.2684_2685del | ENSP00000492349.2:p.Lys895ArgfsTer5 | |
| ENST00000638504.1:n.2589_2590del | ||
| ENST00000638568.2:c.2684_2685del | ENSP00000491158.2:p.Lys895ArgfsTer5 | |
| ENST00000639899.1:n.3500_3501del | ||
| ENST00000640655.2:c.2684_2685del | ENSP00000491596.2:p.Lys895ArgfsTer5 | |
| ENST00000651723.1:c.*3064_*3065del | ENSP00000498237.1:n.*3064_*3065del | |
| ENST00000378823.7:c.2981_2982del | ENSP00000368100.4:p.Lys994ArgfsTer5 | |
| ENST00000533482.5:c.*2607_*2608del | ENSP00000431225.1:n.*2607_*2608del | |
| NM_005732.3:c.2981_2982del | NP_005723.2:p.Lys994ArgfsTer5 | |
| NM_005732.4:c.2981_2982del MANE Select | NP_005723.2:p.Lys994ArgfsTer5 |