Linked Data
ClinVar Variation Id:
5285
ClinVar RCV Id:
RCV000005603
dbSNP Id:
rs532781899
ExAC:
1:27699670 AG / A
gnomAD v2:
1-27699670-AG-A
gnomAD v3:
1-27373179-AG-A
gnomAD v4:
1-27373179-AG-A
MyVariant Identifiers:
chr1:g.27699673del (hg19)
chr1:g.27699671del (hg19)
chr1:g.27373181del (hg38)
chr1:g.27373180del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.27373182del , CM000663.2:g.27373182del | GRCh38 |
| NC_000001.10:g.27699673del , CM000663.1:g.27699673del | GRCh37 |
| NC_000001.9:g.27572260del | NCBI36 |
| NG_016279.1:g.6645del , LRG_171:g.6645del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699962.1:n.348del | ||
| ENST00000699963.1:c.349del | ENSP00000514719.1:p.Leu117SerfsTer? | |
| ENST00000270879.9:c.349del MANE Select | ENSP00000270879.4:p.Leu117SerfsTer? | |
| ENST00000270879.8:c.349del | ENSP00000270879.4:p.Leu117SerfsTer? | |
| ENST00000354982.2:c.316del | ENSP00000347077.2:p.Leu106SerfsTer? | |
| ENST00000498393.1:n.499del | ||
| NM_003665.2:c.349del , LRG_171t1:c.349del | NP_003656.2:p.Leu117SerfsTer? | |
| NM_173452.1:c.316del | NP_775628.1:p.Leu106SerfsTer? | |
| XM_011542339.1:c.349del | XP_011540641.1:p.Leu117SerfsTer? | |
| NM_003665.3:c.349del | NP_003656.2:p.Leu117SerfsTer? | |
| NM_173452.2:c.316del | NP_775628.1:p.Leu106SerfsTer? | |
| NM_003665.4:c.349del MANE Select | NP_003656.2:p.Leu117SerfsTer? | |
| NM_173452.3:c.316del | NP_775628.1:p.Leu106SerfsTer? |