Linked Data
ClinVar Variation Id:
280615
ClinVar RCV Id:
RCV000271903
dbSNP Id:
rs886041786
MyVariant Identifiers:
chr16:g.23197738_23197741dupGCCG (hg19)
chr16:g.23186417_23186420dupGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23186417_23186420dup , CM000678.2:g.23186417_23186420dup | GRCh38 |
| NC_000016.9:g.23197738_23197741dup , CM000678.1:g.23197738_23197741dup | GRCh37 |
| NC_000016.8:g.23105239_23105242dup | NCBI36 |
| NG_011909.1:g.8699_8702dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300061.3:c.146_149dup MANE Select | ENSP00000300061.2:p.Leu51ProfsTer? | |
| ENST00000300061.2:c.146_149dup | ENSP00000300061.2:p.Leu51ProfsTer? | |
| NM_001039.3:c.146_149dup | NP_001030.2:p.Leu51ProfsTer? | |
| NM_001039.4:c.146_149dup MANE Select | NP_001030.2:p.Leu51ProfsTer? |