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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_000014.9:g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG , CM000676.2:g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
GRCh38
NC_000014.8:g.23900690_23900794delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG , CM000676.1:g.23900690_23900794delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
GRCh37
NC_000014.7:g.22970530_22970634delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG
NCBI36
NG_007884.1:g.9077_9181delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG , LRG_384:g.9077_9181delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
ENST00000355349.3:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
NM_000257.3:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
XR_245686.3:n.838_839delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
XM_017021340.1:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG
NM_000257.4:c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG