Linked Data
ClinVar Variation Id:
12794
ClinVar RCV Id:
RCV000013638
dbSNP Id:
rs121918654
MyVariant Identifiers:
chr9:g.127265497_127265498delinsTT (hg19)
chr9:g.124503218_124503219delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124503218_124503219delinsTT , CM000671.2:g.124503218_124503219delinsTT | GRCh38 |
| NC_000009.11:g.127265497_127265498delinsTT , CM000671.1:g.127265497_127265498delinsTT | GRCh37 |
| NC_000009.10:g.126305318_126305319delinsTT | NCBI36 |
| NG_008176.1:g.9202_9203delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373588.9:c.104_105delinsAA MANE Select | ENSP00000362690.4:p.Gly35Glu | |
| ENST00000373588.8:c.104_105delinsAA | ENSP00000362690.4:p.Gly35Glu | |
| ENST00000455734.1:c.104_105delinsAA | ENSP00000393245.1:p.Gly35Glu | |
| ENST00000620110.4:c.104_105delinsAA | ENSP00000483309.1:p.Gly35Glu | |
| NM_004959.4:c.104_105delinsAA | NP_004950.2:p.Gly35Glu | |
| XM_005251871.2:c.104_105delinsAA | XP_005251928.1:p.Gly35Glu | |
| XM_005251872.3:c.-18+75_-18+76delinsAA | XP_005251929.1:n.-18+75_-18+76delinsAA | |
| XM_011518455.1:c.104_105delinsAA | XP_011516757.1:p.Gly35Glu | |
| XM_011518456.1:c.104_105delinsAA | XP_011516758.1:p.Gly35Glu | |
| NM_004959.5:c.104_105delinsAA MANE Select | NP_004950.2:p.Gly35Glu |