Linked Data
ClinVar Variation Id:
47961
ClinVar RCV Id:
RCV000041233
dbSNP Id:
rs397517868
MyVariant Identifiers:
chr3:g.46751095_46751098delinsG (hg19)
chr3:g.46709605_46709608delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46709605_46709608delinsG , CM000665.2:g.46709605_46709608delinsG | GRCh38 |
| NC_000003.11:g.46751095_46751098delinsG , CM000665.1:g.46751095_46751098delinsG | GRCh37 |
| NC_000003.10:g.46726099_46726102delinsG | NCBI36 |
| NG_011628.1:g.13273_13276delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.388_391delinsG MANE Select | ENSP00000494576.2:p.Lys130_Lys131delinsGlu | |
| ENST00000644830.1:c.229_232delinsG | ENSP00000495111.1:p.Lys77_Lys78delinsGlu | |
| ENST00000651652.1:c.589_592delinsG | ENSP00000498953.1:n.589_592delinsG | |
| ENST00000326431.3:c.388_391delinsG | ENSP00000324775.3:p.Lys130_Lys131delinsGlu | |
| NM_147196.2:c.388_391delinsG | NP_671729.2:p.Lys130_Lys131delinsGlu | |
| XM_006713097.2:c.229_232delinsG | XP_006713160.1:p.Lys77_Lys78delinsGlu | |
| XM_011533574.1:c.229_232delinsG | XP_011531876.1:p.Lys77_Lys78delinsGlu | |
| XM_006713097.4:c.229_232delinsG | XP_006713160.1:p.Lys77_Lys78delinsGlu | |
| XM_024453446.1:c.229_232delinsG | XP_024309214.1:p.Lys77_Lys78delinsGlu | |
| NM_001370524.1:c.229_232delinsG | NP_001357453.1:p.Lys77_Lys78delinsGlu | |
| NM_001370525.1:c.229_232delinsG | NP_001357454.1:p.Lys77_Lys78delinsGlu | |
| NM_147196.3:c.388_391delinsG MANE Select | NP_671729.2:p.Lys130_Lys131delinsGlu |