Linked Data
ClinVar Variation Id:
167868
ClinVar RCV Id:
RCV000154184
dbSNP Id:
rs727504229
MyVariant Identifiers:
chr1:g.36563918_36563919delinsAC (hg19)
chr1:g.36098317_36098318delinsAC (hg38)
PubMed:
PMID:18464802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36098317_36098318delinsAC , CM000663.2:g.36098317_36098318delinsAC | GRCh38 |
| NC_000001.10:g.36563918_36563919delinsAC , CM000663.1:g.36563918_36563919delinsAC | GRCh37 |
| NC_000001.9:g.36336505_36336506delinsAC | NCBI36 |
| NG_016245.2:g.31767_31768delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397799.2:c.1363_1364delinsGT MANE Select | ENSP00000380901.1:p.Gln455Val | |
| ENST00000303143.9:c.1363_1364delinsGT | ENSP00000305913.4:p.Gln455Val | |
| ENST00000397799.1:c.1363_1364delinsGT | ENSP00000380901.1:p.Gln455Val | |
| ENST00000481785.1:c.1168_1169delinsGT | ENSP00000436433.1:p.Gln390Val | |
| ENST00000615990.1:c.773-238_773-237delinsGT | ENSP00000484406.1:n.773-238_773-237delins... | |
| NM_001294347.1:c.1168_1169delinsGT | NP_001281276.1:p.Gln390Val | |
| NM_005202.3:c.1363_1364delinsGT | NP_005193.1:p.Gln455Val | |
| XM_005270477.2:c.1594_1595delinsGT | XP_005270534.1:p.Gln532Val | |
| XM_005270477.3:c.1594_1595delinsGT | XP_005270534.1:p.Gln532Val | |
| NM_005202.4:c.1363_1364delinsGT MANE Select | NP_005193.1:p.Gln455Val | |
| NM_001294347.2:c.1168_1169delinsGT | NP_001281276.1:p.Gln390Val |