Linked Data
ClinVar Variation Id:
1293606
ClinVar RCV Id:
RCV001717735
dbSNP Id:
rs11363065
gnomAD v2:
1-100317907-CT-C
gnomAD v3:
1-99852351-CT-C
gnomAD v4:
1-99852351-CT-C
MyVariant Identifiers:
chr1:g.100317910del (hg19)
chr1:g.100317908del (hg19)
chr1:g.99852354del (hg38)
chr1:g.99852352del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99852372del , CM000663.2:g.99852372del | GRCh38 |
| NC_000001.10:g.100317928del , CM000663.1:g.100317928del | GRCh37 |
| NC_000001.9:g.100090516del | NCBI36 |
| NG_012865.1:g.7289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.82+1248del MANE Select | ENSP00000355106.3:n.82+1248del | |
| ENST00000294724.8:c.82+1248del | ENSP00000294724.4:n.82+1248del | |
| ENST00000361302.7:c.-109-189del | ENSP00000354971.3:n.-109-189del | |
| ENST00000361915.7:c.82+1248del | ENSP00000355106.3:n.82+1248del | |
| ENST00000370163.7:c.82+1248del | ENSP00000359182.3:n.82+1248del | |
| ENST00000370165.7:c.82+1248del | ENSP00000359184.3:n.82+1248del | |
| NM_000028.2:c.82+1248del | NP_000019.2:n.82+1248del | |
| NM_000642.2:c.82+1248del | NP_000633.2:n.82+1248del | |
| NM_000643.2:c.82+1248del | NP_000634.2:n.82+1248del | |
| NM_000644.2:c.82+1248del | NP_000635.2:n.82+1248del | |
| NM_000646.2:c.-109-189del | NP_000637.2:n.-109-189del | |
| XM_005270557.1:c.82+1248del | XP_005270614.1:n.82+1248del | |
| XM_005270557.2:c.82+1248del | XP_005270614.1:n.82+1248del | |
| NM_000642.3:c.82+1248del MANE Select | NP_000633.2:n.82+1248del |