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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_000011.10:g.5226796_5226829delinsTAATCTGAGGGTAGGAAAACAGCCCAAGGGAC , CM000673.2:g.5226796_5226829delinsTAATCTGAGGGTAGGAAAACAGCCCAAGGGAC
GRCh38
NC_000011.9:g.5248026_5248059delinsTAATCTGAGGGTAGGAAAACAGCCCAAGGGAC , CM000673.1:g.5248026_5248059delinsTAATCTGAGGGTAGGAAAACAGCCCAAGGGAC
GRCh37
NC_000011.8:g.5204602_5204635delinsTAATCTGAGGGTAGGAAAACAGCCCAAGGGAC
NCBI36
NG_000007.3:g.70787_70820delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NG_059281.1:g.5243_5276delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000647020.1:c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
ENST00000335295.4:c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
ENST00000380315.2:c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
ENST00000485743.1:n.144-30_147delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
ENST00000633227.1:c.77-30_80delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NM_000518.4:c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA
NM_000518.5:c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA