Linked Data
ClinVar Variation Id:
309622
ClinVar RCV Id:
RCV000272419
dbSNP Id:
rs886049632
MyVariant Identifiers:
chr12:g.53045626delinsCGCTGCCGCCTCCAAAGCC (hg19)
chr12:g.52651842delinsCGCTGCCGCCTCCAAAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651842delinsCGCTGCCGCCTCCAAAGCC , CM000674.2:g.52651842delinsCGCTGCCGCCTCCAAAGCC | GRCh38 |
| NC_000012.11:g.53045626delinsCGCTGCCGCCTCCAAAGCC , CM000674.1:g.53045626delinsCGCTGCCGCCTCCAAAGCC | GRCh37 |
| NC_000012.10:g.51331893delinsCGCTGCCGCCTCCAAAGCC | NCBI36 |
| NG_008296.1:g.5334delinsGGCTTTGGAGGCGGCAGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.301delinsGGCTTTGGAGGCGGCAGCG MANE Select | ENSP00000310861.3:p.Ser101delinsGlyPheGlyGlyGlySerGly | |
| ENST00000309680.3:c.301delinsGGCTTTGGAGGCGGCAGCG | ENSP00000310861.3:p.Ser101delinsGlyPheGlyGlyGlySerGly | |
| NM_000423.2:c.301delinsGGCTTTGGAGGCGGCAGCG | NP_000414.2:p.Ser101delinsGlyPheGlyGlyGlySerGly | |
| NM_000423.3:c.301delinsGGCTTTGGAGGCGGCAGCG MANE Select | NP_000414.2:p.Ser101delinsGlyPheGlyGlyGlySerGly |