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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.74749705_74749706insATTTGATAAACACTGATGCGTGTTCTG , CM000677.2:g.74749705_74749706insATTTGATAAACACTGATGCGTGTTCTG
GRCh38
NC_000015.9:g.75042046_75042047insATTTGATAAACACTGATGCGTGTTCTG , CM000677.1:g.75042046_75042047insATTTGATAAACACTGATGCGTGTTCTG
GRCh37
NC_000015.8:g.72829099_72829100insATTTGATAAACACTGATGCGTGTTCTG
NCBI36
NG_008431.1:g.32164_32165insATTTGATAAACACTGATGCGTGTTCTG
NG_008431.2:g.32164_32165insATTTGATAAACACTGATGCGTGTTCTG
NG_061543.1:g.5861_5862insATTTGATAAACACTGATGCGTGTTCTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
MANE Select
ENSP00000342007.4:n.-9-25_-9-24insATTTGAT...
ENST00000343932.4:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
ENSP00000342007.4:n.-9-25_-9-24insATTTGAT...
NM_000761.4:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
NP_000752.2:n.-9-25_-9-24insATTTGATAAACAC...
NM_000761.5:c.-9-25_-9-24insATTTGATAAACACTGATGCGTGTTCTG
MANE Select
NP_000752.2:n.-9-25_-9-24insATTTGATAAACAC...