Linked Data
ClinVar Variation Id:
94258
dbSNP Id:
rs398123761
MyVariant Identifiers:
chr12:g.49433298_49433299delinsAG (hg19)
chr12:g.49039515_49039516delinsAG (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039515_49039516delinsAG , CM000674.2:g.49039515_49039516delinsAG | GRCh38 |
| NC_000012.11:g.49433298_49433299delinsAG , CM000674.1:g.49433298_49433299delinsAG | GRCh37 |
| NC_000012.10:g.47719565_47719566delinsAG | NCBI36 |
| NG_027827.1:g.20809_20810delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.8148_8149delinsCT | ENSP00000506726.1:p.Pro2717Ser | |
| ENST00000685166.1:c.8157_8158delinsCT | ENSP00000509386.1:p.Pro2720Ser | |
| ENST00000689060.1:c.2167_2168delinsCT | ||
| ENST00000689143.1:c.1821_1822delinsCT | ENSP00000509839.1:p.Pro608Ser | |
| ENST00000689944.1:c.2257_2258delinsCT | ||
| ENST00000692637.1:c.8145_8146delinsCT | ENSP00000509666.1:p.Pro2716Ser | |
| ENST00000301067.12:c.8148_8149delinsCT MANE Select | ENSP00000301067.7:p.Pro2717Ser | |
| ENST00000301067.11:c.8148_8149delinsCT | ENSP00000301067.7:p.Pro2717Ser | |
| NM_003482.3:c.8148_8149delinsCT | NP_003473.3:p.Pro2717Ser | |
| XM_005269162.3:c.8148_8149delinsCT | XP_005269219.1:p.Pro2717Ser | |
| XM_006719614.2:c.8157_8158delinsCT | XP_006719677.1:p.Pro2720Ser | |
| XM_006719616.2:c.8145_8146delinsCT | XP_006719679.1:p.Pro2716Ser | |
| XM_011538770.1:c.8157_8158delinsCT | XP_011537072.1:p.Pro2720Ser | |
| XM_011538771.1:c.8154_8155delinsCT | XP_011537073.1:p.Pro2719Ser | |
| XM_011538772.1:c.8148_8149delinsCT | XP_011537074.1:p.Pro2717Ser | |
| XM_011538773.1:c.8145_8146delinsCT | XP_011537075.1:p.Pro2716Ser | |
| XM_011538774.1:c.8136_8137delinsCT | XP_011537076.1:p.Pro2713Ser | |
| XM_011538775.1:c.8157_8158delinsCT | XP_011537077.1:p.Pro2720Ser | |
| XM_011538776.1:c.8064_8065delinsCT | XP_011537078.1:p.Pro2689Ser | |
| XR_944740.1:n.10477_10478delinsCT | ||
| XM_005269162.4:c.8148_8149delinsCT | XP_005269219.1:p.Pro2717Ser | |
| XM_006719614.4:c.8157_8158delinsCT | XP_006719677.1:p.Pro2720Ser | |
| XM_006719616.3:c.8145_8146delinsCT | XP_006719679.1:p.Pro2716Ser | |
| XM_011538770.2:c.8157_8158delinsCT | XP_011537072.1:p.Pro2720Ser | |
| XM_011538771.2:c.8154_8155delinsCT | XP_011537073.1:p.Pro2719Ser | |
| XM_011538772.2:c.8148_8149delinsCT | XP_011537074.1:p.Pro2717Ser | |
| XM_011538773.2:c.8145_8146delinsCT | XP_011537075.1:p.Pro2716Ser | |
| XM_011538774.2:c.8136_8137delinsCT | XP_011537076.1:p.Pro2713Ser | |
| XM_011538776.2:c.8064_8065delinsCT | XP_011537078.1:p.Pro2689Ser | |
| XR_001748874.1:n.9466_9467delinsCT | ||
| NM_003482.4:c.8148_8149delinsCT MANE Select | NP_003473.3:p.Pro2717Ser |