Linked Data
ClinVar Variation Id:
553487
dbSNP Id:
rs1422720020
gnomAD v2:
11-6414449-T-TG
gnomAD v4:
11-6393219-T-TG
MyVariant Identifiers:
chr11:g.6414449_6414450insG (hg19)
chr11:g.6393225dup (hg38)
chr11:g.6393219_6393220insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6393225dup , CM000673.2:g.6393225dup | GRCh38 |
| NC_000011.9:g.6414455dup , CM000673.1:g.6414455dup | GRCh37 |
| NC_000011.8:g.6371031dup | NCBI36 |
| NG_011780.1:g.7801dup | |
| NG_029615.1:g.31195dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1101dup MANE Select | ENSP00000340409.4:p.Phe368ValfsTer23 | |
| ENST00000342245.8:c.1101dup | ENSP00000340409.4:p.Phe368ValfsTer23 | |
| ENST00000526280.1:c.321-392dup | ||
| ENST00000527275.5:c.1098dup | ENSP00000435350.1:p.Phe367ValfsTer23 | |
| ENST00000531303.5:c.448dup | ENSP00000432625.1:p.Val150GlyfsTer18 | |
| ENST00000533123.5:c.1092-392dup | ENSP00000435950.1:n.1092-392dup | |
| ENST00000534405.5:c.1141dup | ENSP00000434353.1:p.Val381GlyfsTer18 | |
| NM_000543.4:c.1101dup | NP_000534.3:p.Phe368ValfsTer23 | |
| NM_001007593.2:c.1098dup | NP_001007594.2:p.Phe367ValfsTer23 | |
| XM_005253075.3:c.1101dup | XP_005253132.1:p.Phe368ValfsTer23 | |
| XM_011520303.1:c.1132-392dup | XP_011518605.1:n.1132-392dup | |
| XM_011520304.1:c.1132-392dup | XP_011518606.1:n.1132-392dup | |
| XR_930886.1:n.1439dup | ||
| NM_001318087.1:c.1101dup | NP_001305016.1:p.Phe368ValfsTer23 | |
| NM_001318088.1:c.180dup | NP_001305017.1:p.Phe61ValfsTer23 | |
| NM_001365135.1:c.1132-392dup | NP_001352064.1:n.1132-392dup | |
| NR_027400.2:n.1277-392dup | ||
| NR_134502.1:n.633dup | ||
| XM_011520304.2:c.1132-392dup | XP_011518606.1:n.1132-392dup | |
| XR_001747940.2:n.1266dup | ||
| XR_002957158.1:n.1266dup | ||
| NM_000543.5:c.1101dup MANE Select | NP_000534.3:p.Phe368ValfsTer23 | |
| NM_001007593.3:c.1098dup | NP_001007594.2:p.Phe367ValfsTer23 | |
| NM_001318087.2:c.1101dup | NP_001305016.1:p.Phe368ValfsTer23 | |
| NM_001318088.2:c.180dup | NP_001305017.1:p.Phe61ValfsTer23 | |
| NM_001365135.2:c.1132-392dup | NP_001352064.1:n.1132-392dup | |
| NR_027400.3:n.1217-392dup | ||
| NR_134502.2:n.573dup |