Linked Data
ClinVar Variation Id:
418895
ClinVar RCV Id:
RCV000483649
dbSNP Id:
rs1064793505
gnomAD v2:
1-228345766-GC-G
gnomAD v3:
1-228158065-GC-G
gnomAD v4:
1-228158065-GC-G
MyVariant Identifiers:
chr1:g.228345769del (hg19)
chr1:g.228345767del (hg19)
chr1:g.228158068del (hg38)
chr1:g.228158066del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158068del , CM000663.2:g.228158068del | GRCh38 |
| NC_000001.10:g.228345769del , CM000663.1:g.228345769del | GRCh37 |
| NC_000001.9:g.226412392del | NCBI36 |
| NG_011838.1:g.13217del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366714.3:c.310del MANE Select | ENSP00000355675.2:p.Arg104ValfsTer? | |
| ENST00000366714.2:c.310del | ENSP00000355675.2:p.Arg104ValfsTer? | |
| NM_020435.3:c.310del | NP_065168.2:p.Arg104ValfsTer? | |
| NM_020435.4:c.310del MANE Select | NP_065168.2:p.Arg104ValfsTer? |