Linked Data
ClinVar Variation Id:
370267
ClinVar RCV Id:
RCV000410442
dbSNP Id:
rs1057516362
MyVariant Identifiers:
chr3:g.120394694_120394695delinsAAT (hg19)
chr3:g.120675847_120675848delinsAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120675847_120675848delinsAAT , CM000665.2:g.120675847_120675848delinsAAT | GRCh38 |
| NC_000003.11:g.120394694_120394695delinsAAT , CM000665.1:g.120394694_120394695delinsAAT | GRCh37 |
| NC_000003.10:g.121877384_121877385delinsAAT | NCBI36 |
| NG_011957.1:g.11634_11635delinsATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283871.10:c.31_32delinsATT MANE Select | ENSP00000283871.5:p.Gly11IlefsTer3 | |
| ENST00000283871.9:c.31_32delinsATT | ENSP00000283871.5:p.Gly11IlefsTer3 | |
| ENST00000466528.5:n.57_58delinsATT | ||
| ENST00000476082.2:c.-4_-3delinsATT | ENSP00000419560.2:n.-4_-3delinsATT | |
| ENST00000480862.1:n.189_190delinsATT | ||
| ENST00000485313.5:n.139_140delinsATT | ||
| ENST00000488183.5:n.289_290delinsATT | ||
| NM_000187.3:c.31_32delinsATT | NP_000178.2:p.Gly11IlefsTer3 | |
| XM_005247412.1:c.31_32delinsATT | XP_005247469.1:p.Gly11IlefsTer3 | |
| XM_005247413.1:c.31_32delinsATT | XP_005247470.1:p.Gly11IlefsTer3 | |
| XM_005247414.3:c.31_32delinsATT | XP_005247471.1:p.Gly11IlefsTer3 | |
| XM_011512746.1:c.31_32delinsATT | XP_011511048.1:p.Gly11IlefsTer3 | |
| XM_005247412.2:c.31_32delinsATT | XP_005247469.1:p.Gly11IlefsTer3 | |
| XM_005247413.2:c.31_32delinsATT | XP_005247470.1:p.Gly11IlefsTer3 | |
| XM_005247414.5:c.31_32delinsATT | XP_005247471.1:p.Gly11IlefsTer3 | |
| XM_011512746.2:c.31_32delinsATT | XP_011511048.1:p.Gly11IlefsTer3 | |
| XM_017006277.2:c.-393_-392delinsATT | XP_016861766.1:n.-393_-392delinsATT | |
| NM_000187.4:c.31_32delinsATT MANE Select | NP_000178.2:p.Gly11IlefsTer3 |