Linked Data
ClinVar Variation Id:
370518
ClinVar RCV Id:
RCV000409931
dbSNP Id:
rs772259613
ExAC:
3:165548323 CTCTT / C
gnomAD v2:
3-165548323-CTCTT-C
gnomAD v3:
3-165830535-CTCTT-C
gnomAD v4:
3-165830535-CTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830538_165830541del , CM000665.2:g.165830538_165830541del | GRCh38 |
| NC_000003.11:g.165548326_165548329del , CM000665.1:g.165548326_165548329del | GRCh37 |
| NC_000003.10:g.167031020_167031023del | NCBI36 |
| NG_009031.1:g.11927_11930del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.495_498del MANE Select | ENSP00000264381.3:p.Arg166LeufsTer3 | |
| ENST00000264381.7:c.495_498del | ENSP00000264381.3:p.Arg166LeufsTer3 | |
| ENST00000479451.5:c.107+6775_107+6778del | ENSP00000418325.1:n.107+6775_107+6778del | |
| ENST00000482958.1:c.495_498del | ENSP00000419804.1:p.Arg166LeufsTer3 | |
| ENST00000488954.1:c.107+6775_107+6778del | ENSP00000418504.1:n.107+6775_107+6778del | |
| ENST00000497011.5:c.495_498del | ENSP00000419505.1:p.Arg166LeufsTer3 | |
| NM_000055.2:c.495_498del | NP_000046.1:p.Arg166LeufsTer3 | |
| XM_005247685.1:c.618_621del | XP_005247742.1:p.Arg207LeufsTer3 | |
| NM_000055.3:c.495_498del | NP_000046.1:p.Arg166LeufsTer3 | |
| NR_137635.1:n.159+6775_159+6778del | ||
| NR_137636.1:n.662_665del | ||
| NM_000055.4:c.495_498del MANE Select | NP_000046.1:p.Arg166LeufsTer3 | |
| NR_137635.2:n.110+6775_110+6778del | ||
| NR_137636.2:n.613_616del |