Linked Data
ClinVar Variation Id:
371460
ClinVar RCV Id:
RCV000411420
dbSNP Id:
rs1057517288
gnomAD v3:
3-165829793-CG-C
gnomAD v4:
3-165829793-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829795del , CM000665.2:g.165829795del | GRCh38 |
| NC_000003.11:g.165547583del , CM000665.1:g.165547583del | GRCh37 |
| NC_000003.10:g.167030277del | NCBI36 |
| NG_009031.1:g.12672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1240del MANE Select | ENSP00000264381.3:p.Arg414ValfsTer? | |
| ENST00000264381.7:c.1240del | ENSP00000264381.3:p.Arg414ValfsTer? | |
| ENST00000479451.5:c.107+7520del | ENSP00000418325.1:n.107+7520del | |
| ENST00000482958.1:c.1240del | ENSP00000419804.1:p.Arg414ValfsTer? | |
| ENST00000488954.1:c.107+7520del | ENSP00000418504.1:n.107+7520del | |
| ENST00000497011.5:c.1240del | ENSP00000419505.1:p.Arg414ValfsTer? | |
| NM_000055.2:c.1240del | NP_000046.1:p.Arg414ValfsTer? | |
| XM_005247685.1:c.1363del | XP_005247742.1:p.Arg455ValfsTer? | |
| NM_000055.3:c.1240del | NP_000046.1:p.Arg414ValfsTer? | |
| NR_137635.1:n.159+7520del | ||
| NR_137636.1:n.1407del | ||
| NM_000055.4:c.1240del MANE Select | NP_000046.1:p.Arg414ValfsTer? | |
| NR_137635.2:n.110+7520del | ||
| NR_137636.2:n.1358del |