Linked Data
ClinVar Variation Id:
3393
ClinVar RCV Id:
RCV000003560
dbSNP Id:
rs876657371
MyVariant Identifiers:
chr3:g.46747278_46747284delinsC (hg19)
chr3:g.46705788_46705794delinsC (hg38)
PubMed:
PMID:12145746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46705788_46705794delinsC , CM000665.2:g.46705788_46705794delinsC | GRCh38 |
| NC_000003.11:g.46747278_46747284delinsC , CM000665.1:g.46747278_46747284delinsC | GRCh37 |
| NC_000003.10:g.46722282_46722288delinsC | NCBI36 |
| NG_011628.1:g.9456_9462delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.94-2_98delinsC | ||
| ENST00000644830.1:c.-66-2_-62delinsC | ||
| ENST00000326431.3:c.94-2_98delinsC | ||
| NM_147196.2:c.94-2_98delinsC | ||
| XM_006713097.2:c.-66-2_-62delinsC | ||
| XM_011533574.1:c.-66-2_-62delinsC | ||
| XM_006713097.4:c.-66-2_-62delinsC | ||
| XM_024453446.1:c.-66-2_-62delinsC | ||
| NM_001370524.1:c.-66-2_-62delinsC | ||
| NM_001370525.1:c.-66-2_-62delinsC | ||
| NM_147196.3:c.94-2_98delinsC |