Linked Data
ClinVar Variation Id:
156024
ClinVar RCV Id:
RCV000144082
dbSNP Id:
rs587777717
MyVariant Identifiers:
chr17:g.39768567_39768568delinsCC (hg19)
chr17:g.41612315_41612316delinsCC (hg38)
PubMed:
PMID:22668561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612315_41612316delinsCC , CM000679.2:g.41612315_41612316delinsCC | GRCh38 |
| NC_000017.10:g.39768567_39768568delinsCC , CM000679.1:g.39768567_39768568delinsCC | GRCh37 |
| NC_000017.9:g.37022093_37022094delinsCC | NCBI36 |
| NG_008301.1:g.5512_5513delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.373_374delinsGG MANE Select | ENSP00000301653.3:p.Asn125Gly | |
| ENST00000301653.8:c.373_374delinsGG | ENSP00000301653.3:p.Asn125Gly | |
| ENST00000588319.1:n.450_451delinsGG | ||
| ENST00000593067.1:c.-312-30_-312-29delinsGG | ENSP00000467124.1:n.-312-30_-312-29delinsGG | |
| NM_005557.3:c.373_374delinsGG | NP_005548.2:p.Asn125Gly | |
| NM_005557.4:c.373_374delinsGG MANE Select | NP_005548.2:p.Asn125Gly |