Linked Data
ClinVar Variation Id:
2960109
ClinVar RCV Id:
RCV003814869
dbSNP Id:
rs1244539546
gnomAD v2:
19-7704600-TC-T
gnomAD v3:
19-7639714-TC-T
gnomAD v4:
19-7639714-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7639716del , CM000681.2:g.7639716del | GRCh38 |
| NC_000019.9:g.7704602del , CM000681.1:g.7704602del | GRCh37 |
| NC_000019.8:g.7610602del | NCBI36 |
| NG_016709.1:g.7612del , LRG_165:g.7612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*124-15del | ENSP00000469553.2:n.*124-15del | |
| ENST00000600702.6:c.170-15del | ENSP00000471737.2:n.170-15del | |
| ENST00000698367.1:n.218-15del | ||
| ENST00000698368.1:c.*273-15del | ENSP00000513686.1:n.*273-15del | |
| ENST00000698369.1:n.397-15del | ||
| ENST00000221283.10:c.170-15del MANE Select | ENSP00000221283.4:n.170-15del | |
| ENST00000221283.9:c.170-15del | ENSP00000221283.4:n.170-15del | |
| ENST00000414284.6:c.170-15del | ENSP00000409471.1:n.170-15del | |
| ENST00000441779.6:c.170-15del | ENSP00000413606.2:n.170-15del | |
| ENST00000593535.5:c.74-15del | ENSP00000470313.1:n.74-15del | |
| ENST00000595181.5:n.207-15del | ||
| ENST00000595866.1:c.269-15del | ||
| ENST00000595950.5:c.169+616del | ENSP00000471161.1:n.169+616del | |
| ENST00000597068.5:c.170-15del | ENSP00000471327.1:n.170-15del | |
| ENST00000598664.5:c.52-2318del | ENSP00000472796.1:n.52-2318del | |
| ENST00000599243.5:c.*316-15del | ENSP00000470078.1:n.*316-15del | |
| ENST00000599737.5:c.122-15del | ENSP00000471585.1:n.122-15del | |
| ENST00000622853.4:c.170-15del | ENSP00000480468.1:n.170-15del | |
| NM_001127396.2:c.170-15del | NP_001120868.1:n.170-15del | |
| NM_001272034.1:c.170-15del | NP_001258963.1:n.170-15del | |
| NM_006949.3:c.170-15del | NP_008880.2:n.170-15del | |
| NR_073560.1:n.219-15del | ||
| XM_011528210.1:c.170-15del | XP_011526512.1:n.170-15del | |
| XM_011528211.1:c.170-15del | XP_011526513.1:n.170-15del | |
| XM_011528212.1:c.170-15del | XP_011526514.1:n.170-15del | |
| XM_011528213.1:c.170-15del | XP_011526515.1:n.170-15del | |
| XM_011528210.2:c.170-15del | XP_011526512.1:n.170-15del | |
| XM_011528212.3:c.170-15del | XP_011526514.1:n.170-15del | |
| XR_001753741.2:n.208-15del | ||
| NM_006949.4:c.170-15del MANE Select | NP_008880.2:n.170-15del | |
| NM_001127396.3:c.170-15del | NP_001120868.1:n.170-15del | |
| NM_001272034.2:c.170-15del | NP_001258963.1:n.170-15del | |
| NR_073560.2:n.210-15del |