Allele Registry

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.2148758_2148760delinsACT , CM000673.2:g.2148758_2148760delinsACT	GRCh38
NC_000011.9:g.2169988_2169990delinsACT , CM000673.1:g.2169988_2169990delinsACT	GRCh37
NC_000011.8:g.2126564_2126566delinsACT	NCBI36
NG_008849.1:g.5844_5846delinsAGT
NG_050578.1:g.17450_17452delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000481781.3:c.-249+366_-249+368delinsAGT (IGF2)	ENSP00000511998.1:n.-249+366_-249+368deli...
ENST00000643349.2:c.254+366_254+368delinsAGT	ENSP00000495715.1:n.254+366_254+368delins...
ENST00000695541.1:c.-249+366_-249+368delinsAGT (IGF2)	ENSP00000511997.1:n.-249+366_-249+368deli...
ENST00000481781.2:n.345+366_345+368delinsAGT
ENST00000643349.1:c.254+366_254+368delinsAGT	ENSP00000495715.1:n.254+366_254+368delins...
ENST00000356578.8:c.407+366_407+368delinsAGT (INS-IGF2)	ENSP00000348986.4:n.407+366_407+368delins...
ENST00000397270.1:c.407+366_407+368delinsAGT (INS-IGF2)	ENSP00000380440.1:n.407+366_407+368delins...
ENST00000481781.1:n.612+366_612+368delinsAGT (INS-IGF2)
NM_001007139.5:c.-249+366_-249+368delinsAGT (IGF2)	NP_001007140.2:n.-249+366_-249+368delinsA...
NM_001042376.2:c.407+366_407+368delinsAGT (INS-IGF2)	NP_001035835.1:n.407+366_407+368delinsAGT...
NR_003512.3:n.466+366_466+368delinsAGT (INS-IGF2)
NM_001042376.3:c.407+366_407+368delinsAGT (INS-IGF2)	NP_001035835.1:n.407+366_407+368delinsAGT...
NR_003512.4:n.466+366_466+368delinsAGT (INS-IGF2)
NM_001007139.6:c.-249+366_-249+368delinsAGT (IGF2)	NP_001007140.2:n.-249+366_-249+368delinsA...