Linked Data
ClinVar Variation Id:
286328
ClinVar RCV Id:
RCV000306228
RCV000265031
RCV000365849
RCV000587300
RCV001023396
RCV000401688
RCV004543081
dbSNP Id:
rs545666726
ExAC:
1:193091319 A / AG
gnomAD v2:
1-193091319-A-AG
gnomAD v3:
1-193122189-A-AG
gnomAD v4:
1-193122189-A-AG
COSMIC:
COSN17145532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193122197dup , CM000663.2:g.193122197dup | GRCh38 |
| NC_000001.10:g.193091327dup , CM000663.1:g.193091327dup | GRCh37 |
| NC_000001.9:g.191357950dup | NCBI36 |
| NG_012691.1:g.5240dup , LRG_507:g.5240dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.-4dup MANE Select | ENSP00000356405.4:n.-4dup | |
| ENST00000635846.1:c.-4dup | ENSP00000490035.1:n.-4dup | |
| ENST00000643006.1:c.-4dup | ENSP00000496633.1:n.-4dup | |
| ENST00000643784.1:c.-4dup | ENSP00000494944.1:n.-4dup | |
| ENST00000648071.1:c.-4dup | ENSP00000497513.1:n.-4dup | |
| ENST00000649606.1:n.10dup | ||
| ENST00000649895.1:n.215dup | ||
| ENST00000650197.1:c.-4dup | ENSP00000496929.1:n.-4dup | |
| ENST00000367435.3:c.-4dup | ENSP00000356405.3:n.-4dup | |
| NM_024529.4:c.-4dup , LRG_507t1:c.-4dup | NP_078805.3:n.-4dup | |
| XM_006711537.2:c.-4dup | XP_006711600.1:n.-4dup | |
| XM_006711537.4:c.-4dup | XP_006711600.1:n.-4dup | |
| XR_001738350.1:n.1467dup | ||
| NM_024529.5:c.-4dup MANE Select | NP_078805.3:n.-4dup |