Linked Data
dbSNP Id:
rs1258200782
gnomAD v2:
1-197111613-A-AAGGGGATAC
MyVariant Identifiers:
chr1:g.197111613_197111614insAGGGGATAC (hg19)
chr1:g.197142483_197142484insAGGGGATAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142483_197142484insAGGGGATAC , CM000663.2:g.197142483_197142484insAGGGGATAC | GRCh38 |
| NC_000001.10:g.197111613_197111614insAGGGGATAC , CM000663.1:g.197111613_197111614insAGGGGATAC | GRCh37 |
| NC_000001.9:g.195378236_195378237insAGGGGATAC | NCBI36 |
| NG_015867.1:g.9211_9212insGTATCCCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.1768_1769insGTATCCCCT MANE Select | ENSP00000356379.4:p.Ile590delinsSerIlePro... | |
| ENST00000679766.1:n.1985_1986insGTATCCCCT | ||
| ENST00000680265.1:c.1768_1769insGTATCCCCT | ENSP00000505384.1:p.Ile590delinsSerIlePro... | |
| ENST00000680710.1:c.1768_1769insGTATCCCCT | ENSP00000506676.1:p.Ile590delinsSerIlePro... | |
| ENST00000681879.1:c.1768_1769insGTATCCCCT | ENSP00000505363.1:p.Ile590delinsSerIlePro... | |
| ENST00000294732.11:c.1768_1769insGTATCCCCT | ENSP00000294732.7:p.Ile590delinsSerIlePro... | |
| ENST00000367409.8:c.1768_1769insGTATCCCCT | ENSP00000356379.4:p.Ile590delinsSerIlePro... | |
| ENST00000612785.1:c.561+1207_561+1208insGTATCCCCT | ENSP00000479244.1:n.561+1207_561+1208insG... | |
| NM_001206846.1:c.1768_1769insGTATCCCCT | NP_001193775.1:p.Ile590delinsSerIleProPhe... | |
| NM_018136.4:c.1768_1769insGTATCCCCT | NP_060606.3:p.Ile590delinsSerIleProPhe | |
| NM_018136.5:c.1768_1769insGTATCCCCT MANE Select | NP_060606.3:p.Ile590delinsSerIleProPhe | |
| NM_001206846.2:c.1768_1769insGTATCCCCT | NP_001193775.1:p.Ile590delinsSerIleProPhe... |