Linked Data
ClinVar Variation Id:
65794
dbSNP Id:
rs397515596
MyVariant Identifiers:
chr2:g.26698850_26698868delinsTGCGCTCGGAG (hg19)
chr2:g.26475982_26476000delinsTGCGCTCGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26475982_26476000delinsTGCGCTCGGAG , CM000664.2:g.26475982_26476000delinsTGCGCTCGGAG | GRCh38 |
| NC_000002.11:g.26698850_26698868delinsTGCGCTCGGAG , CM000664.1:g.26698850_26698868delinsTGCGCTCGGAG | GRCh37 |
| NC_000002.10:g.26552354_26552372delinsTGCGCTCGGAG | NCBI36 |
| NG_009937.1:g.87699_87717delinsCTCCGAGCGCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.2905_2923delinsCTCCGAGCGCA MANE Select | ENSP00000272371.2:p.Ala969LeufsTer30 | |
| ENST00000339598.8:c.664_682delinsCTCCGAGCGCA MANE Plus Clinical | ENSP00000344521.3:p.Ala222LeufsTer30 | |
| ENST00000402415.8:c.664_682delinsCTCCGAGCGCA | ENSP00000383906.4:p.Ala222LeufsTer30 | |
| ENST00000272371.6:c.2905_2923delinsCTCCGAGCGCA | ENSP00000272371.2:p.Ala969LeufsTer30 | |
| ENST00000338581.10:c.664_682delinsCTCCGAGCGCA | ENSP00000345137.6:p.Ala222LeufsTer30 | |
| ENST00000339598.7:c.664_682delinsCTCCGAGCGCA | ENSP00000344521.3:p.Ala222LeufsTer30 | |
| ENST00000402415.7:c.835_853delinsCTCCGAGCGCA | ENSP00000383906.3:p.Ala279LeufsTer30 | |
| ENST00000403946.7:c.2905_2923delinsCTCCGAGCGCA | ENSP00000385255.3:p.Ala969LeufsTer30 | |
| NM_001287489.1:c.2905_2923delinsCTCCGAGCGCA | NP_001274418.1:p.Ala969LeufsTer30 | |
| NM_004802.3:c.664_682delinsCTCCGAGCGCA | NP_004793.2:p.Ala222LeufsTer30 | |
| NM_194248.2:c.2905_2923delinsCTCCGAGCGCA | NP_919224.1:p.Ala969LeufsTer30 | |
| NM_194322.2:c.835_853delinsCTCCGAGCGCA | NP_919303.1:p.Ala279LeufsTer30 | |
| NM_194323.2:c.664_682delinsCTCCGAGCGCA | NP_919304.1:p.Ala222LeufsTer30 | |
| XM_005264644.2:c.2950_2968delinsCTCCGAGCGCA | XP_005264701.1:p.Ala984LeufsTer30 | |
| XM_011533185.1:c.2950_2968delinsCTCCGAGCGCA | XP_011531487.1:p.Ala984LeufsTer30 | |
| XM_017005338.1:c.2905_2923delinsCTCCGAGCGCA | XP_016860827.1:p.Ala969LeufsTer30 | |
| NM_001287489.2:c.2905_2923delinsCTCCGAGCGCA | NP_001274418.1:p.Ala969LeufsTer30 | |
| NM_004802.4:c.664_682delinsCTCCGAGCGCA | NP_004793.2:p.Ala222LeufsTer30 | |
| NM_194248.3:c.2905_2923delinsCTCCGAGCGCA MANE Select | NP_919224.1:p.Ala969LeufsTer30 | |
| NM_194322.3:c.835_853delinsCTCCGAGCGCA | NP_919303.1:p.Ala279LeufsTer30 | |
| NM_194323.3:c.664_682delinsCTCCGAGCGCA MANE Plus Clinical | NP_919304.1:p.Ala222LeufsTer30 |