UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
95587
ClinVar RCV Id:
RCV000081619
dbSNP Id:
rs398124269
MyVariant Identifiers:
chr11:g.134128475_134128476dup (hg19)
chr11:g.134128475_134128476dupCT (hg19)
chr11:g.134258581_134258582dupCT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134258581_134258582dup , CM000673.2:g.134258581_134258582dup | GRCh38 |
| NC_000011.9:g.134128475_134128476dup , CM000673.1:g.134128475_134128476dup | GRCh37 |
| NC_000011.8:g.133633685_133633686dup | NCBI36 |
| NG_015842.1:g.10042_10043dup , LRG_448:g.10042_10043dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281182.9:c.447_448dup MANE Select | ENSP00000281182.5:p.Cys150SerfsTer25 | |
| ENST00000281182.8:c.447_448dup | ENSP00000281182.4:p.Cys150SerfsTer25 | |
| ENST00000374752.6:c.110-427_110-426dup | ENSP00000363884.4:n.110-427_110-426dup | |
| ENST00000524426.5:c.*46_*47dup | ENSP00000431310.1:n.*46_*47dup | |
| ENST00000524547.5:n.94-427_94-426dup | ||
| ENST00000526026.5:c.*136_*137dup | ENSP00000431532.1:n.*136_*137dup | |
| ENST00000527082.5:n.301_302dup | ||
| ENST00000527665.5:n.835_836dup | ||
| ENST00000528325.5:n.276_277dup | ||
| ENST00000530533.5:n.310_311dup | ||
| ENST00000531338.5:n.303_304dup | ||
| ENST00000533387.5:n.208_209dup | ||
| ENST00000534240.5:n.208_209dup | ||
| ENST00000534433.5:n.423-427_423-426dup | ||
| NM_014384.2:c.447_448dup , LRG_448t1:c.447_448dup | NP_055199.1:p.Cys150SerfsTer25 | |
| XM_005271501.2:c.447_448dup | XP_005271558.1:p.Cys150SerfsTer25 | |
| XM_005271505.2:c.447_448dup | XP_005271562.1:p.Cys150SerfsTer25 | |
| XM_011542750.1:c.447_448dup | XP_011541052.1:p.Cys150SerfsTer25 | |
| XR_947819.1:n.511_512dup | ||
| XR_947820.1:n.511_512dup | ||
| XR_947821.1:n.511_512dup | ||
| XR_947822.1:n.341_342dup | ||
| XR_947823.1:n.497_498dup | ||
| XM_005271505.4:c.447_448dup | XP_005271562.1:p.Cys150SerfsTer25 | |
| XM_011542750.3:c.447_448dup | XP_011541052.1:p.Cys150SerfsTer25 | |
| XM_017017542.2:c.447_448dup | XP_016873031.1:p.Cys150SerfsTer25 | |
| XM_017017543.2:c.447_448dup | XP_016873032.1:p.Cys150SerfsTer25 | |
| XM_017017544.2:c.447_448dup | XP_016873033.1:p.Cys150SerfsTer25 | |
| XM_017017545.2:c.447_448dup | XP_016873034.1:p.Cys150SerfsTer25 | |
| XM_017017546.2:c.153_154dup | XP_016873035.1:p.Cys52SerfsTer25 | |
| XM_017017547.2:c.153_154dup | XP_016873036.1:p.Cys52SerfsTer25 | |
| XM_017017548.2:c.447_448dup | XP_016873037.1:p.Cys150SerfsTer25 | |
| XM_017017549.2:c.447_448dup | XP_016873038.1:p.Cys150SerfsTer25 | |
| XM_024448437.1:c.447_448dup | XP_024304205.1:p.Cys150SerfsTer25 | |
| XM_024448438.1:c.66_67dup | XP_024304206.1:p.Cys23SerfsTer25 | |
| NM_014384.3:c.447_448dup MANE Select | NP_055199.1:p.Cys150SerfsTer25 |