Linked Data
ClinVar Variation Id:
189227
ClinVar RCV Id:
RCV000169656
dbSNP Id:
rs757649673
ExAC:
10:16960686 ATAACCTC / A
gnomAD v2:
10-16960686-ATAACCTC-A
gnomAD v3:
10-16918687-ATAACCTC-A
gnomAD v4:
10-16918687-ATAACCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16918689_16918695del , CM000672.2:g.16918689_16918695del | GRCh38 |
| NC_000010.10:g.16960688_16960694del , CM000672.1:g.16960688_16960694del | GRCh37 |
| NC_000010.9:g.17000694_17000700del | NCBI36 |
| NG_008967.1:g.216124_216130del , LRG_540:g.216124_216130del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.6928_6934del MANE Select | ENSP00000367064.4:p.Glu2310CysfsTer3 | |
| ENST00000377833.8:c.6928_6934del | ENSP00000367064.4:p.Glu2310CysfsTer3 | |
| NM_001081.3:c.6928_6934del , LRG_540t1:c.6928_6934del | NP_001072.2:p.Glu2310CysfsTer3 | |
| XM_011519708.1:c.6928_6934del | XP_011518010.1:p.Glu2310CysfsTer3 | |
| XM_011519709.1:c.2914_2920del | XP_011518011.1:p.Glu972CysfsTer3 | |
| XM_011519710.1:c.2890_2896del | XP_011518012.1:p.Glu964CysfsTer3 | |
| XM_011519711.1:c.2770_2776del | XP_011518013.1:p.Glu924CysfsTer3 | |
| XM_011519708.2:c.6928_6934del | XP_011518010.1:p.Glu2310CysfsTer3 | |
| XM_011519709.2:c.2914_2920del | XP_011518011.1:p.Glu972CysfsTer3 | |
| XM_011519710.2:c.2890_2896del | XP_011518012.1:p.Glu964CysfsTer3 | |
| XM_011519711.3:c.2770_2776del | XP_011518013.1:p.Glu924CysfsTer3 | |
| NM_001081.4:c.6928_6934del MANE Select | NP_001072.2:p.Glu2310CysfsTer3 |