Linked Data
ClinVar Variation Id:
41893
ClinVar RCV Id:
RCV000034819
dbSNP Id:
rs398122519
PubMed:
PMID:23054245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1762115dup , CM000679.2:g.1762115dup | GRCh38 |
| NC_000017.10:g.1665409dup , CM000679.1:g.1665409dup | GRCh37 |
| NC_000017.9:g.1612159dup | NCBI36 |
| NG_028180.1:g.5151dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.-9+2dup MANE Select | ENSP00000254722.4:n.-9+2dup | |
| ENST00000254722.8:c.-9+2dup | ENSP00000254722.4:n.-9+2dup | |
| ENST00000571149.5:c.-167dup | ENSP00000460905.1:n.-167dup | |
| ENST00000571360.5:c.-9+2dup | ENSP00000461660.1:n.-9+2dup | |
| ENST00000571870.5:n.53+2dup | ||
| ENST00000573770.5:c.-9+2dup | ENSP00000459107.1:n.-9+2dup | |
| ENST00000576406.5:c.-478+2dup | ENSP00000461214.1:n.-478+2dup | |
| NM_002615.5:c.-9+2dup | NP_002606.3:n.-9+2dup | |
| NM_001329904.1:c.-478+2dup | NP_001316833.1:n.-478+2dup | |
| NM_002615.6:c.-9+2dup | NP_002606.3:n.-9+2dup | |
| NM_002615.7:c.-9+2dup MANE Select | NP_002606.3:n.-9+2dup | |
| NM_001329904.2:c.-478+2dup | NP_001316833.1:n.-478+2dup |