Linked Data
ClinVar Variation Id:
190957
ClinVar RCV Id:
RCV000171130
dbSNP Id:
rs876661306
PubMed:
PMID:25476234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38458222_38458248del , CM000681.2:g.38458222_38458248del | GRCh38 |
| NC_000019.9:g.38948862_38948888del , CM000681.1:g.38948862_38948888del | GRCh37 |
| NC_000019.8:g.43640702_43640728del | NCBI36 |
| NG_008866.1:g.29523_29549del , LRG_766:g.29523_29549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.2097_2123del | ENSP00000471601.2:p.Glu699_Gly707del | |
| ENST00000359596.8:c.2097_2123del MANE Select | ENSP00000352608.2:p.Glu699_Gly707del | |
| ENST00000355481.8:c.2097_2123del | ENSP00000347667.3:p.Glu699_Gly707del | |
| ENST00000359596.7:c.2097_2123del | ENSP00000352608.2:p.Glu699_Gly707del | |
| ENST00000360985.7:c.2097_2123del | ENSP00000354254.4:p.Glu699_Gly707del | |
| NM_000540.2:c.2097_2123del , LRG_766t1:c.2097_2123del | NP_000531.2:p.Glu699_Gly707del | |
| NM_001042723.1:c.2097_2123del | NP_001036188.1:p.Glu699_Gly707del | |
| XM_006723317.1:c.2097_2123del | XP_006723380.1:p.Glu699_Gly707del | |
| XM_006723319.1:c.2097_2123del | XP_006723382.1:p.Glu699_Gly707del | |
| XM_011527204.1:c.2094_2120del | XP_011525506.1:p.Glu698_Gly706del | |
| XM_011527205.1:c.2097_2123del | XP_011525507.1:p.Glu699_Gly707del | |
| XM_006723317.2:c.2097_2123del | XP_006723380.1:p.Glu699_Gly707del | |
| XM_006723319.2:c.2097_2123del | XP_006723382.1:p.Glu699_Gly707del | |
| XM_011527205.2:c.2097_2123del | XP_011525507.1:p.Glu699_Gly707del | |
| XR_001753735.1:n.2180_2206del | ||
| NM_000540.3:c.2097_2123del MANE Select | NP_000531.2:p.Glu699_Gly707del | |
| NM_001042723.2:c.2097_2123del | NP_001036188.1:p.Glu699_Gly707del |