Linked Data
ClinVar Variation Id:
1939954
ClinVar RCV Id:
RCV002658164
dbSNP Id:
rs778684010
ExAC:
1:197111465 TTTC / T
gnomAD v2:
1-197111465-TTTC-T
gnomAD v3:
1-197142335-TTTC-T
gnomAD v4:
1-197142335-TTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142342_197142344del , CM000663.2:g.197142342_197142344del | GRCh38 |
| NC_000001.10:g.197111472_197111474del , CM000663.1:g.197111472_197111474del | GRCh37 |
| NC_000001.9:g.195378095_195378097del | NCBI36 |
| NG_015867.1:g.9357_9359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.1914_1916del MANE Select | ENSP00000356379.4:p.Lys639del | |
| ENST00000679766.1:n.2131_2133del | ||
| ENST00000680265.1:c.1914_1916del | ENSP00000505384.1:p.Lys639del | |
| ENST00000680710.1:c.1914_1916del | ENSP00000506676.1:p.Lys639del | |
| ENST00000681879.1:c.1914_1916del | ENSP00000505363.1:p.Lys639del | |
| ENST00000294732.11:c.1914_1916del | ENSP00000294732.7:p.Lys639del | |
| ENST00000367409.8:c.1914_1916del | ENSP00000356379.4:p.Lys639del | |
| ENST00000612785.1:c.561+1353_561+1355del | ENSP00000479244.1:n.561+1353_561+1355del | |
| NM_001206846.1:c.1914_1916del | NP_001193775.1:p.Lys639del | |
| NM_018136.4:c.1914_1916del | NP_060606.3:p.Lys639del | |
| NM_018136.5:c.1914_1916del MANE Select | NP_060606.3:p.Lys639del | |
| NM_001206846.2:c.1914_1916del | NP_001193775.1:p.Lys639del |