Linked Data
ClinVar Variation Id:
1344729
ClinVar RCV Id:
RCV001849730
dbSNP Id:
rs768741176
ExAC:
6:1611109 CAAG / C
gnomAD v2:
6-1611109-CAAG-C
gnomAD v3:
6-1610874-CAAG-C
gnomAD v4:
6-1610874-CAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610878_1610880del , CM000668.2:g.1610878_1610880del | GRCh38 |
| NC_000006.11:g.1611113_1611115del , CM000668.1:g.1611113_1611115del | GRCh37 |
| NC_000006.10:g.1556112_1556114del | NCBI36 |
| NG_009368.1:g.5433_5435del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.433_435del MANE Select | ENSP00000493906.1:p.Lys145del | |
| ENST00000380874.3:c.433_435del | ENSP00000370256.2:p.Lys145del | |
| NM_001453.2:c.433_435del | NP_001444.2:p.Lys145del | |
| NM_001453.3:c.433_435del MANE Select | NP_001444.2:p.Lys145del |