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:
551837
ClinVar RCV Id:
RCV000666990
dbSNP Id:
rs1553772963
MyVariant Identifiers:
chr3:g.165773471_165773488dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165773477_165773494dup , CM000665.2:g.165773477_165773494dup | GRCh38 |
| NC_000003.11:g.165491265_165491282dup , CM000665.1:g.165491265_165491282dup | GRCh37 |
| NC_000003.10:g.166973959_166973976dup | NCBI36 |
| NG_009031.1:g.68978_68995dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1703_1720dup MANE Select | ENSP00000264381.3:p.Ala573_Gly574insGluTr... | |
| ENST00000264381.7:c.1703_1720dup | ENSP00000264381.3:p.Ala573_Gly574insGluTr... | |
| ENST00000479451.5:c.293_310dup | ENSP00000418325.1:p.Ala103_Gly104insGluTr... | |
| ENST00000482958.1:c.*209_*226dup | ENSP00000419804.1:n.*209_*226dup | |
| ENST00000497011.5:c.*93_*110dup | ENSP00000419505.1:n.*93_*110dup | |
| NM_000055.2:c.1703_1720dup | NP_000046.1:p.Ala573_Gly574insGluTrpGluTr... | |
| XM_005247685.1:c.1826_1843dup | XP_005247742.1:p.Ala614_Gly615insGluTrpGl... | |
| NM_000055.3:c.1703_1720dup | NP_000046.1:p.Ala573_Gly574insGluTrpGluTr... | |
| NR_137635.1:n.345_362dup | ||
| NR_137636.1:n.1949_1966dup | ||
| NM_000055.4:c.1703_1720dup MANE Select | NP_000046.1:p.Ala573_Gly574insGluTrpGluTr... | |
| NR_137635.2:n.296_313dup | ||
| NR_137636.2:n.1900_1917dup |