Linked Data
ClinVar Variation Id:
869437
ClinVar RCV Id:
RCV001089530
dbSNP Id:
rs1027684031
gnomAD v3:
3-8745856-AAGG-A
gnomAD v4:
3-8745856-AAGG-A
MyVariant Identifiers:
chr3:g.8787543_8787545del (hg19)
chr3:g.8745858_8745860del (hg38)
chr3:g.8745857_8745859del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745860_8745862del , CM000665.2:g.8745860_8745862del | GRCh38 |
| NC_000003.11:g.8787546_8787548del , CM000665.1:g.8787546_8787548del | GRCh37 |
| NC_000003.10:g.8762546_8762548del | NCBI36 |
| NG_008797.2:g.17051_17053del , LRG_329:g.17051_17053del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.449_451del MANE Select | ENSP00000341940.2:p.Glu150del | |
| ENST00000343849.2:c.449_451del | ENSP00000341940.2:p.Glu150del | |
| ENST00000397368.2:c.449_451del | ENSP00000380525.2:p.Glu150del | |
| ENST00000472766.1:n.155+11870_155+11872del | ||
| NM_001234.4:c.449_451del | NP_001225.1:p.Glu150del | |
| NM_033337.2:c.449_451del , LRG_329t1:c.449_451del | NP_203123.1:p.Glu150del | |
| NM_001234.5:c.449_451del | NP_001225.1:p.Glu150del | |
| NM_033337.3:c.449_451del MANE Select | NP_203123.1:p.Glu150del |