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_000001.11:g.17053947_17054019delinsCCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT , CM000663.2:g.17053947_17054019delinsCCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT	GRCh38
NC_000001.10:g.17380442_17380514delinsCCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT , CM000663.1:g.17380442_17380514delinsCCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT	GRCh37
NC_000001.9:g.17253029_17253101delinsCCTGCAGGCAGGCTCCGCCAAGGGTTGTGGCCGGCAACCGGCGCCTCAAGGAGAGGGCGACCACCGCCGCCAT	NCBI36
NG_012340.1:g.5152_5224delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG , LRG_316:g.5152_5224delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000375499.8:c.1_72+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG
ENST00000375499.7:c.1_72+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG
ENST00000466613.2:n.13_84+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG
NM_003000.2:c.1_72+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG , LRG_316t1:c.1_72+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG
NM_003000.3:c.1_72+1delinsATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAGG