Linked Data
ClinVar Variation Id:
92911
dbSNP Id:
rs398123356
ExAC:
3:33138526 G / GA
gnomAD v2:
3-33138526-G-GA
gnomAD v3:
3-33097034-G-GA
gnomAD v4:
3-33097034-G-GA
MyVariant Identifiers:
chr3:g.33138527dup (hg19)
chr3:g.33138527dupA (hg19)
chr3:g.33138526_33138527insA (hg19)
chr3:g.33097035dupA (hg38)
chr3:g.33097034_33097035insA (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33097036dup , CM000665.2:g.33097036dup | GRCh38 |
| NC_000003.11:g.33138528dup , CM000665.1:g.33138528dup | GRCh37 |
| NC_000003.10:g.33113532dup | NCBI36 |
| NG_009005.1:g.5168dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.51dup (GLB1) MANE Select | ENSP00000306920.4:p.Leu18SerfsTer16 | |
| ENST00000342462.5:c.-425dup (TMPPE) MANE Select | ENSP00000343398.4:n.-425dup | |
| ENST00000307363.9:c.51dup (GLB1) | ENSP00000306920.4:p.Leu18SerfsTer16 | |
| ENST00000307377.12:c.51dup (GLB1) | ENSP00000305920.8:p.Leu18SerfsTer16 | |
| ENST00000415454.1:c.51dup (GLB1) | ENSP00000411813.1:p.Leu18SerfsTer10 | |
| ENST00000436768.1:c.51dup (GLB1) | ENSP00000387989.1:p.Leu18SerfsTer24 | |
| ENST00000438227.1:c.51dup (GLB1) | ENSP00000401250.1:p.Leu18SerfsTer? | |
| ENST00000440656.1:c.-173dup (GLB1) | ENSP00000411769.1:n.-173dup | |
| ENST00000464355.1:n.9dup (GLB1) | ||
| ENST00000482097.5:n.84dup (GLB1) | ||
| ENST00000485698.5:n.112dup (GLB1) | ||
| ENST00000498537.5:n.108dup (GLB1) | ||
| NM_000404.2:c.51dup (GLB1) | NP_000395.2:p.Leu18SerfsTer16 | |
| NM_000404.3:c.51dup (GLB1) | NP_000395.2:p.Leu18SerfsTer16 | |
| NM_001135602.1:c.51dup (GLB1) | NP_001129074.1:p.Leu18SerfsTer16 | |
| NM_001135602.2:c.51dup (GLB1) | NP_001129074.1:p.Leu18SerfsTer16 | |
| NM_001317040.1:c.51dup (GLB1) | NP_001303969.1:p.Leu18SerfsTer24 | |
| NM_000404.4:c.51dup (GLB1) MANE Select | NP_000395.3:p.Leu18SerfsTer16 | |
| NM_001039770.3:c.-425dup (TMPPE) MANE Select | NP_001034859.2:n.-425dup | |
| NM_001136238.2:c.-321dup (TMPPE) | NP_001129710.1:n.-321dup | |
| NM_001135602.3:c.51dup (GLB1) | NP_001129074.2:p.Leu18SerfsTer16 | |
| NM_001317040.2:c.51dup (GLB1) | NP_001303969.2:p.Leu18SerfsTer24 | |
| NM_001393580.1:c.51dup (GLB1) | NP_001380509.1:p.Leu18SerfsTer16 |