Linked Data
ClinVar Variation Id:
177698
dbSNP Id:
rs730880336
ExAC:
11:47367805 A / ATGCCG
gnomAD v2:
11-47367805-A-ATGCCG
MyVariant Identifiers:
chr11:g.47367806_47367810dupTGCCG (hg19)
chr11:g.47367805_47367806insTGCCG (hg19)
chr11:g.47346255_47346259dupTGCCG (hg38)
chr11:g.47346254_47346255insTGCCG (hg38)
PubMed:
PMID:16061003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47346255_47346259dup , CM000673.2:g.47346255_47346259dup | GRCh38 |
| NC_000011.9:g.47367806_47367810dup , CM000673.1:g.47367806_47367810dup | GRCh37 |
| NC_000011.8:g.47324382_47324386dup | NCBI36 |
| NG_007667.1:g.11444_11448dup , LRG_386:g.11444_11448dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1038_1042dup MANE Select | ENSP00000442795.1:p.Met348ThrfsTer4 | |
| ENST00000256993.8:c.1038_1042dup | ENSP00000256993.5:p.Met348ThrfsTer4 | |
| ENST00000399249.6:c.1038_1042dup | ENSP00000382193.2:p.Met348ThrfsTer4 | |
| ENST00000544791.1:c.1038_1042dup | ENSP00000444259.1:p.Met348ThrfsTer4 | |
| ENST00000545968.5:c.1038_1042dup | ENSP00000442795.1:p.Met348ThrfsTer4 | |
| NM_000256.3:c.1038_1042dup , LRG_386t1:c.1038_1042dup MANE Select | NP_000247.2:p.Met348ThrfsTer4 | |
| XM_011520117.1:c.1020_1024dup | XP_011518419.1:p.Met342ThrfsTer4 | |
| XM_011520118.1:c.1038_1042dup | XP_011518420.1:p.Met348ThrfsTer4 |