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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_000005.10:g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC , CM000667.2:g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC
GRCh38
NC_000005.9:g.134364614_134364649delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC , CM000667.1:g.134364614_134364649delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC
GRCh37
NC_000005.8:g.134392513_134392548delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC
NCBI36
NG_012114.1:g.10316_10351delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000265340.12:c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
MANE Select
ENSP00000265340.6:p.Ser255=
ENST00000265340.11:c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
ENSP00000265340.6:p.Ser255=
ENST00000506438.5:c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
ENSP00000427542.1:p.Ser255=
NM_002653.4:c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
NP_002644.4:p.Ser255=
NM_002653.5:c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC
MANE Select
NP_002644.4:p.Ser255=