Linked Data
ClinVar Variation Id:
294624
ClinVar RCV Id:
RCV000375823
dbSNP Id:
rs748503995
ExAC:
1:197072908 ATTG / A
gnomAD v2:
1-197072908-ATTG-A
gnomAD v4:
1-197103778-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197103784_197103786del , CM000663.2:g.197103784_197103786del | GRCh38 |
| NC_000001.10:g.197072914_197072916del , CM000663.1:g.197072914_197072916del | GRCh37 |
| NC_000001.9:g.195339537_195339539del | NCBI36 |
| NG_015867.1:g.47914_47916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-7617_2108-7615del | ||
| ENST00000367409.9:c.5470_5472del MANE Select | ENSP00000356379.4:p.Gln1824del | |
| ENST00000680265.1:c.5470_5472del | ENSP00000505384.1:p.Gln1824del | |
| ENST00000680710.1:c.5470_5472del | ENSP00000506676.1:p.Gln1824del | |
| ENST00000294732.11:c.4066-7617_4066-7615del | ENSP00000294732.7:n.4066-7617_4066-7615del | |
| ENST00000367408.5:c.1816-7617_1816-7615del | ENSP00000356378.1:n.1816-7617_1816-7615del | |
| ENST00000367409.8:c.5470_5472del | ENSP00000356379.4:p.Gln1824del | |
| ENST00000612785.1:c.562-1134_562-1132del | ENSP00000479244.1:n.562-1134_562-1132del | |
| NM_001206846.1:c.4066-7617_4066-7615del | NP_001193775.1:n.4066-7617_4066-7615del | |
| NM_018136.4:c.5470_5472del | NP_060606.3:p.Gln1824del | |
| NM_018136.5:c.5470_5472del MANE Select | NP_060606.3:p.Gln1824del | |
| NM_001206846.2:c.4066-7617_4066-7615del | NP_001193775.1:n.4066-7617_4066-7615del |