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:
373624
ClinVar RCV Id:
RCV000413342
dbSNP Id:
rs1057518511
MyVariant Identifiers:
chr10:g.121432114_121432118dupGCCAC (hg19)
chr10:g.119672602_119672606dupGCCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672602_119672606dup , CM000672.2:g.119672602_119672606dup | GRCh38 |
| NC_000010.10:g.121432114_121432118dup , CM000672.1:g.121432114_121432118dup | GRCh37 |
| NC_000010.9:g.121422104_121422108dup | NCBI36 |
| NG_016125.1:g.26233_26237dup , LRG_742:g.26233_26237dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.855_859dup MANE Select | ENSP00000358081.4:p.Leu287ArgfsTer22 | |
| ENST00000369085.7:c.855_859dup | ENSP00000358081.3:p.Leu287ArgfsTer22 | |
| ENST00000450186.1:c.681_685dup | ENSP00000410036.1:p.Leu229ArgfsTer21 | |
| NM_004281.3:c.855_859dup , LRG_742t1:c.855_859dup | NP_004272.2:p.Leu287ArgfsTer22 | |
| XM_005270287.1:c.855_859dup | XP_005270344.1:p.Leu287ArgfsTer21 | |
| XM_005270287.2:c.855_859dup | XP_005270344.1:p.Leu287ArgfsTer21 | |
| NM_004281.4:c.855_859dup MANE Select | NP_004272.2:p.Leu287ArgfsTer22 |