Linked Data
ClinVar Variation Id:
65773
ClinVar RCV Id:
RCV000056011
dbSNP Id:
rs397515579
MyVariant Identifiers:
chr2:g.26707443_26707444delinsG (hg19)
chr2:g.26484575_26484576delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26484575_26484576delinsG , CM000664.2:g.26484575_26484576delinsG | GRCh38 |
| NC_000002.11:g.26707443_26707444delinsG , CM000664.1:g.26707443_26707444delinsG | GRCh37 |
| NC_000002.10:g.26560947_26560948delinsG | NCBI36 |
| NG_009937.1:g.79123_79124delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.1103_1104delinsC MANE Select | ENSP00000272371.2:p.Gly368AlafsTer2 | |
| ENST00000272371.6:c.1103_1104delinsC | ENSP00000272371.2:p.Gly368AlafsTer2 | |
| ENST00000403946.7:c.1103_1104delinsC | ENSP00000385255.3:p.Gly368AlafsTer2 | |
| NM_001287489.1:c.1103_1104delinsC | NP_001274418.1:p.Gly368AlafsTer2 | |
| NM_194248.2:c.1103_1104delinsC | NP_919224.1:p.Gly368AlafsTer2 | |
| XM_005264644.2:c.1148_1149delinsC | XP_005264701.1:p.Gly383AlafsTer2 | |
| XM_011533185.1:c.1148_1149delinsC | XP_011531487.1:p.Gly383AlafsTer2 | |
| XM_017005338.1:c.1103_1104delinsC | XP_016860827.1:p.Gly368AlafsTer2 | |
| NM_001287489.2:c.1103_1104delinsC | NP_001274418.1:p.Gly368AlafsTer2 | |
| NM_194248.3:c.1103_1104delinsC MANE Select | NP_919224.1:p.Gly368AlafsTer2 |