Linked Data
ClinVar Variation Id:
42726
dbSNP Id:
rs397516029
MyVariant Identifiers:
chr11:g.47354120dupG (hg19)
chr11:g.47354119_47354120insG (hg19)
chr11:g.47332569dupG (hg38)
chr11:g.47332568_47332569insG (hg38)
PubMed:
PMID:20128375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332572dup , CM000673.2:g.47332572dup | GRCh38 |
| NC_000011.9:g.47354123dup , CM000673.1:g.47354123dup | GRCh37 |
| NC_000011.8:g.47310699dup | NCBI36 |
| NG_007667.1:g.25134dup , LRG_386:g.25134dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3624dup MANE Select | ENSP00000442795.1:p.Lys1209GlnfsTer? | |
| ENST00000256993.8:c.3624dup | ENSP00000256993.5:p.Lys1209GlnfsTer? | |
| ENST00000399249.6:c.3624dup | ENSP00000382193.2:p.Lys1209GlnfsTer? | |
| ENST00000545968.5:c.3624dup | ENSP00000442795.1:p.Lys1209GlnfsTer? | |
| NM_000256.3:c.3624dup , LRG_386t1:c.3624dup MANE Select | NP_000247.2:p.Lys1209GlnfsTer? | |
| XM_011520117.1:c.3606dup | XP_011518419.1:p.Lys1203GlnfsTer? | |
| XM_011520118.1:c.3543dup | XP_011518420.1:p.Lys1182GlnfsTer? |