Linked Data
ClinVar Variation Id:
2009261
ClinVar RCV Id:
RCV002838237
dbSNP Id:
rs1794183613
gnomAD v4:
7-107779651-CTATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779652_107779655del , CM000669.2:g.107779652_107779655del | GRCh38 |
| NC_000007.13:g.107420097_107420100del , CM000669.1:g.107420097_107420100del | GRCh37 |
| NC_000007.12:g.107207333_107207336del | NCBI36 |
| NG_008046.1:g.28579_28582del , LRG_683:g.28579_28582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1407+13_1407+16del MANE Select | ENSP00000345873.5:n.1407+13_1407+16del | |
| ENST00000340010.9:c.1407+13_1407+16del | ENSP00000345873.5:n.1407+13_1407+16del | |
| ENST00000379083.7:c.*1198+13_*1198+16del | ENSP00000368375.3:n.*1198+13_*1198+16del | |
| NM_000111.2:c.1407+13_1407+16del , LRG_683t1:c.1407+13_1407+16del | NP_000102.1:n.1407+13_1407+16del | |
| XM_011515867.1:c.1407+13_1407+16del | XP_011514169.1:n.1407+13_1407+16del | |
| NM_000111.3:c.1407+13_1407+16del MANE Select | NP_000102.1:n.1407+13_1407+16del |