Linked Data
ClinVar Variation Id:
418946
ClinVar RCV Id:
RCV000478656
dbSNP Id:
rs1555316699
MyVariant Identifiers:
chr14:g.37132211_37132214dupACCG (hg19)
chr14:g.36663006_36663009dupACCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36663006_36663009dup , CM000676.2:g.36663006_36663009dup | GRCh38 |
| NC_000014.8:g.37132211_37132214dup , CM000676.1:g.37132211_37132214dup | GRCh37 |
| NC_000014.7:g.36201962_36201965dup | NCBI36 |
| NG_013357.1:g.10439_10442dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361487.7:c.114_117dup MANE Select | ENSP00000355245.6:p.Cys40ThrfsTer3 | |
| ENST00000555639.2:c.114_117dup | ENSP00000501203.1:p.Cys40ThrfsTer3 | |
| ENST00000361487.6:c.114_117dup | ENSP00000355245.6:p.Cys40ThrfsTer3 | |
| ENST00000402703.6:c.114_117dup | ENSP00000384817.2:p.Cys40ThrfsTer3 | |
| ENST00000554201.1:c.-448_-445dup | ENSP00000450434.1:n.-448_-445dup | |
| ENST00000555639.1:n.416_419dup | ||
| NM_006194.3:c.114_117dup | NP_006185.1:p.Cys40ThrfsTer3 | |
| NM_001372076.1:c.114_117dup MANE Select | NP_001359005.1:p.Cys40ThrfsTer3 | |
| NM_006194.4:c.114_117dup | NP_006185.1:p.Cys40ThrfsTer3 |