Linked Data
ClinVar Variation Id:
167269
dbSNP Id:
rs727504002
ExAC:
3:182755073 GC / G
gnomAD v2:
3-182755073-GC-G
gnomAD v3:
3-183037285-GC-G
gnomAD v4:
3-183037285-GC-G
MyVariant Identifiers:
chr3:g.182755074del (hg19)
chr3:g.182755074delC (hg19)
chr3:g.183037286del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183037286del , CM000665.2:g.183037286del | GRCh38 |
| NC_000003.11:g.182755074del , CM000665.1:g.182755074del | GRCh37 |
| NC_000003.10:g.184237768del | NCBI36 |
| NG_008100.1:g.67292del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1526del MANE Select | ENSP00000265594.4:p.Cys509SerfsTer14 | |
| ENST00000265594.8:c.1526del | ENSP00000265594.4:p.Cys509SerfsTer14 | |
| ENST00000476176.5:c.1385del | ENSP00000420433.1:p.Cys462SerfsTer14 | |
| ENST00000489909.1:n.70del | ||
| ENST00000492597.5:c.1199del | ENSP00000419898.1:p.Cys400SerfsTer14 | |
| ENST00000495767.5:c.*1107del | ENSP00000419658.1:n.*1107del | |
| ENST00000497830.5:c.*1123del | ENSP00000420088.1:n.*1123del | |
| ENST00000497959.5:c.1263+1740del | ENSP00000420648.1:n.1263+1740del | |
| ENST00000539926.5:c.1076del | ENSP00000441253.2:p.Cys359SerfsTer14 | |
| ENST00000610757.4:c.1076del | ENSP00000480435.1:p.Cys359SerfsTer14 | |
| ENST00000629669.2:c.1263+1740del | ENSP00000486824.1:n.1263+1740del | |
| NM_001293273.1:c.1175del | NP_001280202.1:p.Cys392SerfsTer14 | |
| NM_020166.4:c.1526del | NP_064551.3:p.Cys509SerfsTer14 | |
| NR_120639.1:n.1440del | ||
| NR_120640.1:n.2044+1740del | ||
| XM_006713702.1:c.1199del | XP_006713765.1:p.Cys400SerfsTer14 | |
| XM_011512992.1:c.1412del | XP_011511294.1:p.Cys471SerfsTer14 | |
| XM_011512993.1:c.1377+1740del | XP_011511295.1:n.1377+1740del | |
| XR_241502.2:n.1524+1740del | ||
| XR_924159.1:n.1673del | ||
| NM_001363880.1:c.1199del | NP_001350809.1:p.Cys400SerfsTer14 | |
| XM_011512992.2:c.1412del | XP_011511294.1:p.Cys471SerfsTer14 | |
| XR_001740207.2:n.1649del | ||
| XR_001740208.2:n.1649del | ||
| XR_001740209.2:n.1470+1740del | ||
| XR_001740210.1:n.1479del | ||
| XR_002959553.1:n.1649del | ||
| XR_002959554.1:n.1500+1740del | ||
| XR_241502.3:n.1470+1740del | ||
| NM_020166.5:c.1526del MANE Select | NP_064551.3:p.Cys509SerfsTer14 | |
| NM_001293273.2:c.1175del | NP_001280202.1:p.Cys392SerfsTer14 | |
| NR_120639.2:n.1349del | ||
| NR_120640.2:n.2044+1740del |