Linked Data
ClinVar Variation Id:
558294
ClinVar RCV Id:
RCV000674538
dbSNP Id:
rs1553167474
MyVariant Identifiers:
chr1:g.40092069del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092071del , CM000663.2:g.40092071del | GRCh38 |
| NC_000001.10:g.40557743del , CM000663.1:g.40557743del | GRCh37 |
| NC_000001.9:g.40330330del | NCBI36 |
| NG_009192.1:g.10402del , LRG_690:g.10402del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*174del | ENSP00000361865.5:n.*174del | |
| ENST00000433473.8:c.335del | ENSP00000394863.4:p.Gly112AspfsTer9 | |
| ENST00000439754.6:c.338del | ENSP00000403207.2:p.Gly113AspfsTer9 | |
| ENST00000449045.7:c.125-2557del | ENSP00000392293.2:n.125-2557del | |
| ENST00000526547.2:c.618del | ||
| ENST00000527311.7:c.234+329del | ENSP00000436695.3:n.234+329del | |
| ENST00000530704.6:c.338del | ENSP00000431655.1:p.Gly113AspfsTer9 | |
| ENST00000641083.1:c.316del | ||
| ENST00000641236.1:n.575del | ||
| ENST00000641319.1:c.338del | ENSP00000493128.1:p.Gly113AspfsTer9 | |
| ENST00000641471.1:c.425del | ENSP00000493146.1:p.Gly142AspfsTer9 | |
| ENST00000641548.1:c.*190del | ENSP00000492984.1:n.*190del | |
| ENST00000641691.1:c.*190del | ENSP00000492910.1:n.*190del | |
| ENST00000641924.1:c.124+5046del | ENSP00000493063.1:n.124+5046del | |
| ENST00000642050.2:c.338del MANE Select | ENSP00000493153.1:p.Gly113AspfsTer9 | |
| ENST00000372779.8:c.425del | ENSP00000361865.4:p.Gly142AspfsTer9 | |
| ENST00000433473.7:c.338del | ENSP00000394863.3:p.Gly113AspfsTer9 | |
| ENST00000439754.5:c.23del | ENSP00000403207.1:p.Gly8AspfsTer9 | |
| ENST00000449045.6:c.125-2557del | ENSP00000392293.2:n.125-2557del | |
| ENST00000526547.1:c.188del | ENSP00000436481.1:p.Gly63AspfsTer9 | |
| ENST00000527311.6:c.125-12del | ENSP00000436695.2:n.125-12del | |
| ENST00000529905.5:c.338del | ENSP00000432053.1:p.Gly113AspfsTer9 | |
| ENST00000530704.5:c.338del | ENSP00000431655.1:p.Gly113AspfsTer9 | |
| NM_000310.3:c.338del , LRG_690t1:c.338del | NP_000301.1:p.Gly113AspfsTer9 | |
| NM_001142604.1:c.125-2557del | NP_001136076.1:n.125-2557del | |
| XM_005271008.1:c.338del | XP_005271065.1:p.Gly113AspfsTer9 | |
| NM_001363695.1:c.338del | NP_001350624.1:p.Gly113AspfsTer9 | |
| NM_000310.4:c.338del MANE Select | NP_000301.1:p.Gly113AspfsTer9 | |
| NM_001142604.2:c.125-2557del | NP_001136076.1:n.125-2557del | |
| NM_001363695.2:c.338del | NP_001350624.1:p.Gly113AspfsTer9 |