Linked Data
ClinVar Variation Id:
2072564
ClinVar RCV Id:
RCV002949599
gnomAD v4:
5-132609267-ATTTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609272_132609276del , CM000667.2:g.132609272_132609276del | GRCh38 |
| NC_000005.9:g.131944964_131944968del , CM000667.1:g.131944964_131944968del | GRCh37 |
| NC_000005.8:g.131972863_131972867del | NCBI36 |
| NG_021151.1:g.57349_57353del | |
| NG_021151.2:g.57296_57300del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2923-11_2923-7del MANE Select | ENSP00000368100.4:n.2923-11_2923-7del | |
| ENST00000638452.2:c.2626-11_2626-7del | ENSP00000492349.2:n.2626-11_2626-7del | |
| ENST00000638504.1:n.2531-11_2531-7del | ||
| ENST00000638568.2:c.2626-11_2626-7del | ENSP00000491158.2:n.2626-11_2626-7del | |
| ENST00000639899.1:n.3442-11_3442-7del | ||
| ENST00000640655.2:c.2626-11_2626-7del | ENSP00000491596.2:n.2626-11_2626-7del | |
| ENST00000651160.1:c.*1067-11_*1067-7del | ENSP00000498829.1:n.*1067-11_*1067-7del | |
| ENST00000651723.1:c.*3006-11_*3006-7del | ENSP00000498237.1:n.*3006-11_*3006-7del | |
| ENST00000378823.7:c.2923-11_2923-7del | ENSP00000368100.4:n.2923-11_2923-7del | |
| ENST00000423956.5:c.*1109-11_*1109-7del | ENSP00000390971.1:n.*1109-11_*1109-7del | |
| ENST00000533482.5:c.*2549-11_*2549-7del | ENSP00000431225.1:n.*2549-11_*2549-7del | |
| NM_005732.3:c.2923-11_2923-7del | NP_005723.2:n.2923-11_2923-7del | |
| NM_005732.4:c.2923-11_2923-7del MANE Select | NP_005723.2:n.2923-11_2923-7del |