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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_000015.10:g.73322870_73322897delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG , CM000677.2:g.73322870_73322897delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG
GRCh38
NC_000015.9:g.73615211_73615238delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG , CM000677.1:g.73615211_73615238delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG
GRCh37
NC_000015.8:g.71402264_71402291delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGG
NCBI36
NG_009063.1:g.51368_51395delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
MANE Select
ENSP00000261917.3:p.Pro1066=
ENST00000261917.3:c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
ENSP00000261917.3:p.Pro1066=
NM_005477.2:c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
NP_005468.1:p.Pro1066=
XM_011521148.1:c.1978_2005delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
XP_011519450.1:p.Pro660=
XM_011521148.2:c.1978_2005delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
XP_011519450.1:p.Pro660=
NM_005477.3:c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA
MANE Select
NP_005468.1:p.Pro1066=