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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.114044078_114044120delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT , CM000672.2:g.114044078_114044120delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
GRCh38
NC_000010.10:g.115803837_115803879delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT , CM000672.1:g.115803837_115803879delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
GRCh37
NC_000010.9:g.115793827_115793869delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
NCBI36
NG_012187.1:g.5032_5074delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000369295.4:c.-55_-13delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
MANE Select
ENSP00000358301.2:n.-55_-13delinsCCCAACCA...
ENST00000369295.3:c.-55_-13delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
ENSP00000358301.2:n.-55_-13delinsCCCAACCA...
NM_000684.2:c.-55_-13delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
NP_000675.1:n.-55_-13delinsCCCAACCACGGCCC...
NM_000684.3:c.-55_-13delinsCCCAACCACGGCCCAGCCCTGCCACACCCCCCGCCCCCGGCCT
MANE Select
NP_000675.1:n.-55_-13delinsCCCAACCACGGCCC...