Linked Data
ClinVar Variation Id:
438738
ClinVar RCV Id:
RCV000505545
dbSNP Id:
rs1553309983
PubMed:
PMID:28777934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3387768del , CM000664.2:g.3387768del | GRCh38 |
| NC_000002.11:g.3391539del , CM000664.1:g.3391539del | GRCh37 |
| NC_000002.10:g.3370546del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324266.10:c.145del MANE Select | ENSP00000324318.5:p.Glu49ArgfsTer14 | |
| ENST00000324266.9:c.145del | ENSP00000324318.5:p.Glu49ArgfsTer14 | |
| ENST00000382110.6:c.145del | ENSP00000371544.2:p.Glu49ArgfsTer14 | |
| ENST00000482645.1:n.306del | ||
| NM_016030.5:c.145del | NP_057114.5:p.Glu49ArgfsTer14 | |
| XM_005264693.2:c.145del | XP_005264750.1:p.Glu49ArgfsTer14 | |
| XM_011510350.1:c.145del | XP_011508652.1:p.Glu49ArgfsTer14 | |
| XM_011510351.1:c.145del | XP_011508653.1:p.Glu49ArgfsTer14 | |
| XM_011510352.1:c.145del | XP_011508654.1:p.Glu49ArgfsTer14 | |
| XM_011510353.1:c.145del | XP_011508655.1:p.Glu49ArgfsTer14 | |
| XM_011510354.1:c.145del | XP_011508656.1:p.Glu49ArgfsTer14 | |
| XR_426956.2:n.343del | ||
| XR_922679.1:n.354del | ||
| NM_001321102.1:c.145del | NP_001308031.1:p.Glu49ArgfsTer14 | |
| XM_011510350.2:c.145del | XP_011508652.1:p.Glu49ArgfsTer14 | |
| XM_011510352.2:c.145del | XP_011508654.1:p.Glu49ArgfsTer14 | |
| XM_011510353.2:c.145del | XP_011508655.1:p.Glu49ArgfsTer14 | |
| XM_011510354.2:c.145del | XP_011508656.1:p.Glu49ArgfsTer14 | |
| XM_017004257.1:c.145del | XP_016859746.1:p.Glu49ArgfsTer14 | |
| XR_001738761.1:n.781del | ||
| XR_001738762.1:n.781del | ||
| XR_426956.3:n.781del | ||
| NM_016030.6:c.145del MANE Select | NP_057114.5:p.Glu49ArgfsTer14 | |
| NM_001321102.2:c.145del | NP_001308031.1:p.Glu49ArgfsTer14 |