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:
185058
ClinVar RCV Id:
RCV000164416
dbSNP Id:
rs786201897
gnomAD v2:
5-131939730-T-TA
gnomAD v4:
5-132604038-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604039dup , CM000667.2:g.132604039dup | GRCh38 |
| NC_000005.9:g.131939731dup , CM000667.1:g.131939731dup | GRCh37 |
| NC_000005.8:g.131967630dup | NCBI36 |
| NG_021151.1:g.52116dup | |
| NG_021151.2:g.52063dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2517dup MANE Select | ENSP00000368100.4:p.Asp840ArgfsTer5 | |
| ENST00000638452.2:c.2220dup | ENSP00000492349.2:p.Asp741ArgfsTer5 | |
| ENST00000638504.1:n.2125dup | ||
| ENST00000638568.2:c.2220dup | ENSP00000491158.2:p.Asp741ArgfsTer5 | |
| ENST00000639899.1:n.3036dup | ||
| ENST00000640655.2:c.2220dup | ENSP00000491596.2:p.Asp741ArgfsTer5 | |
| ENST00000651160.1:c.*661dup | ENSP00000498829.1:n.*661dup | |
| ENST00000651723.1:c.*2600dup | ENSP00000498237.1:n.*2600dup | |
| ENST00000652016.1:c.*734dup | ENSP00000498267.1:n.*734dup | |
| ENST00000652485.1:c.2550dup | ENSP00000498973.1:p.Asp851ArgfsTer5 | |
| ENST00000378823.7:c.2517dup | ENSP00000368100.4:p.Asp840ArgfsTer5 | |
| ENST00000423956.5:c.*703dup | ENSP00000390971.1:n.*703dup | |
| ENST00000533482.5:c.*2143dup | ENSP00000431225.1:n.*2143dup | |
| NM_005732.3:c.2517dup | NP_005723.2:p.Asp840ArgfsTer5 | |
| NM_005732.4:c.2517dup MANE Select | NP_005723.2:p.Asp840ArgfsTer5 |