Linked Data
ClinVar Variation Id:
551971
dbSNP Id:
rs1553169787
MyVariant Identifiers:
chr1:g.53211120_53211121del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53211120_53211121del , CM000663.2:g.53211120_53211121del | GRCh38 |
| NC_000001.10:g.53676792_53676793del , CM000663.1:g.53676792_53676793del | GRCh37 |
| NC_000001.9:g.53449380_53449381del | NCBI36 |
| NG_008035.1:g.19692_19693del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.1446_1447del MANE Select | ENSP00000360541.3:p.Val483GlyfsTer7 | |
| ENST00000635862.1:c.1446_1447del | ENSP00000490867.1:p.Val483GlyfsTer7 | |
| ENST00000635888.1:c.*1432_*1433del | ENSP00000490042.1:n.*1432_*1433del | |
| ENST00000636239.1:c.*1093_*1094del | ENSP00000490066.1:n.*1093_*1094del | |
| ENST00000636867.1:c.1446_1447del | ENSP00000489631.1:p.Val483GlyfsTer7 | |
| ENST00000636891.1:c.1446_1447del | ENSP00000490399.1:p.Val483GlyfsTer7 | |
| ENST00000636935.1:c.341-2144_341-2143del | ENSP00000489757.1:n.341-2144_341-2143del | |
| ENST00000637252.1:c.1446_1447del | ENSP00000490492.1:p.Val483GlyfsTer7 | |
| ENST00000637726.1:n.3646_3647del | ||
| ENST00000638135.1:c.*1093_*1094del | ENSP00000489756.1:n.*1093_*1094del | |
| ENST00000371486.3:c.1446_1447del | ENSP00000360541.3:p.Val483GlyfsTer7 | |
| NM_000098.2:c.1446_1447del | NP_000089.1:p.Val483GlyfsTer7 | |
| XM_005270484.1:c.1446_1447del | XP_005270541.1:p.Val483GlyfsTer7 | |
| NM_001330589.1:c.1446_1447del | NP_001317518.1:p.Val483GlyfsTer7 | |
| NM_000098.3:c.1446_1447del MANE Select | NP_000089.1:p.Val483GlyfsTer7 | |
| NM_001330589.2:c.1446_1447del | NP_001317518.1:p.Val483GlyfsTer7 |