WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
1059967
ClinVar RCV Id:
RCV001369336
dbSNP Id:
rs1946497601
gnomAD v4:
12-12718227-T-TTGGTGGACCCAAAGACTGATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718228_12718248dup , CM000674.2:g.12718228_12718248dup | GRCh38 |
| NC_000012.11:g.12871162_12871182dup , CM000674.1:g.12871162_12871182dup | GRCh37 |
| NC_000012.10:g.12762429_12762449dup | NCBI36 |
| NG_016341.1:g.5861_5881dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.389_409dup | ENSP00000507272.1:p.Asp136_Pro137insLeuVa... | |
| ENST00000682620.1:n.1631-597_1631-577dup | ||
| ENST00000684771.1:n.585-597_585-577dup | ||
| ENST00000228872.9:c.389_409dup MANE Select | ENSP00000228872.4:p.Asp136_Pro137insLeuVa... | |
| ENST00000228872.8:c.389_409dup | ENSP00000228872.4:p.Asp136_Pro137insLeuVa... | |
| ENST00000396340.1:c.389_409dup | ENSP00000379629.1:p.Asp136_Pro137insLeuVa... | |
| ENST00000442489.1:c.193+175_193+195dup | ENSP00000407597.1:n.193+175_193+195dup | |
| ENST00000477087.1:n.155-597_155-577dup | ||
| NM_004064.4:c.389_409dup | NP_004055.1:p.Asp136_Pro137insLeuValAspPr... | |
| NM_004064.5:c.389_409dup MANE Select | NP_004055.1:p.Asp136_Pro137insLeuValAspPr... |