Linked Data
ClinVar Variation Id:
222958
ClinVar RCV Id:
RCV000210740
dbSNP Id:
rs869312973
MyVariant Identifiers:
chr12:g.8212426_8212427dupTC (hg19)
chr12:g.8212425_8212426insTC (hg19)
chr12:g.8059830_8059831dupTC (hg38)
chr12:g.8059829_8059830insTC (hg38)
PubMed:
PMID:27551680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8059830_8059831dup , CM000674.2:g.8059830_8059831dup | GRCh38 |
| NC_000012.11:g.8212426_8212427dup , CM000674.1:g.8212426_8212427dup | GRCh37 |
| NC_000012.10:g.8103693_8103694dup | NCBI36 |
| NG_050736.1:g.11641_11642dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307637.5:c.355_356dup MANE Select | ENSP00000302079.4:p.Asp119GlufsTer19 | |
| ENST00000307637.4:c.355_356dup | ENSP00000302079.4:p.Asp119GlufsTer19 | |
| ENST00000546241.1:c.355_356dup | ENSP00000444500.1:p.Asp119GlufsTer19 | |
| NM_004054.2:c.355_356dup | NP_004045.1:p.Asp119GlufsTer19 | |
| NM_001326475.1:c.355_356dup | NP_001313404.1:p.Asp119GlufsTer19 | |
| NM_001326477.1:c.355_356dup | NP_001313406.1:p.Asp119GlufsTer19 | |
| NM_004054.3:c.355_356dup | NP_004045.1:p.Asp119GlufsTer19 | |
| NM_001326475.2:c.355_356dup | NP_001313404.1:p.Asp119GlufsTer19 | |
| NM_001326477.2:c.355_356dup | NP_001313406.1:p.Asp119GlufsTer19 | |
| NM_004054.4:c.355_356dup MANE Select | NP_004045.1:p.Asp119GlufsTer19 |