Linked Data
ClinVar Variation Id:
536843
ClinVar RCV Id:
RCV002440313
dbSNP Id:
rs1555085575
gnomAD v4:
12-12718118-G-GC
MyVariant Identifiers:
chr12:g.12871058dup (hg19)
chr12:g.12871053_12871054insC (hg19)
chr12:g.12718124dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718124dup , CM000674.2:g.12718124dup | GRCh38 |
| NC_000012.11:g.12871058dup , CM000674.1:g.12871058dup | GRCh37 |
| NC_000012.10:g.12762325dup | NCBI36 |
| NG_016341.1:g.5757dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.285dup | ENSP00000507272.1:p.Lys96GlnfsTer29 | |
| ENST00000682620.1:n.1631-701dup | ||
| ENST00000684771.1:n.585-701dup | ||
| ENST00000228872.9:c.285dup MANE Select | ENSP00000228872.4:p.Lys96GlnfsTer29 | |
| ENST00000228872.8:c.285dup | ENSP00000228872.4:p.Lys96GlnfsTer29 | |
| ENST00000396340.1:c.285dup | ENSP00000379629.1:p.Lys96GlnfsTer29 | |
| ENST00000442489.1:c.193+71dup | ENSP00000407597.1:n.193+71dup | |
| ENST00000477087.1:n.155-701dup | ||
| NM_004064.4:c.285dup | NP_004055.1:p.Lys96GlnfsTer29 | |
| NM_004064.5:c.285dup MANE Select | NP_004055.1:p.Lys96GlnfsTer29 |