Linked Data
dbSNP Id:
rs1286208823
gnomAD v2:
3-128199906-A-AGGAGAGGCT
gnomAD v4:
3-128481063-A-AGGAGAGGCT
MyVariant Identifiers:
chr3:g.128199906_128199907insGGAGAGGCT (hg19)
chr3:g.128481063_128481064insGGAGAGGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481068_128481076dup , CM000665.2:g.128481068_128481076dup | GRCh38 |
| NC_000003.11:g.128199911_128199919dup , CM000665.1:g.128199911_128199919dup | GRCh37 |
| NC_000003.10:g.129682601_129682609dup | NCBI36 |
| NG_029334.1:g.17116_17124dup , LRG_295:g.17116_17124dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1390_1398dup MANE Plus Clinical | ENSP00000417074.1:p.Ser466_Phe467insSerLeuSer | |
| ENST00000696466.1:c.1672_1680dup | ENSP00000512647.1:p.Ser560_Phe561insSerLeuSer | |
| ENST00000696672.1:c.365_373dup | ENSP00000512796.1:p.Leu124_Leu125insGlnProLeu | |
| ENST00000341105.7:c.1390_1398dup MANE Select | ENSP00000345681.2:p.Ser466_Phe467insSerLeuSer | |
| ENST00000341105.6:c.1390_1398dup | ENSP00000345681.2:p.Ser466_Phe467insSerLeuSer | |
| ENST00000430265.6:c.1348_1356dup | ENSP00000400259.2:p.Ser452_Phe453insSerLeuSer | |
| ENST00000487848.5:c.1390_1398dup | ENSP00000417074.1:p.Ser466_Phe467insSerLeuSer | |
| ENST00000489987.1:n.507_515dup | ||
| NM_001145661.1:c.1390_1398dup , LRG_295t1:c.1390_1398dup | NP_001139133.1:p.Ser466_Phe467insSerLeuSer | |
| NM_001145662.1:c.1348_1356dup | NP_001139134.1:p.Ser452_Phe453insSerLeuSer | |
| NM_032638.4:c.1390_1398dup , LRG_295t2:c.1390_1398dup | NP_116027.2:p.Ser466_Phe467insSerLeuSer | |
| NM_001145661.2:c.1390_1398dup MANE Plus Clinical | NP_001139133.1:p.Ser466_Phe467insSerLeuSer | |
| NM_032638.5:c.1390_1398dup MANE Select | NP_116027.2:p.Ser466_Phe467insSerLeuSer |