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_000007.14:g.17298467_17298580delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT , CM000669.2:g.17298467_17298580delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT	GRCh38
NC_000007.13:g.17338091_17338204delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT , CM000669.1:g.17338091_17338204delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT	GRCh37
NC_000007.12:g.17304616_17304729delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000642825.1:c.20+1843_20+1956delinsGTCCTTACGTCCTACGTCATCACGTGCCGGGATGAGGGTGGGGCCCTCAAGGAAGACGGAATGGAATCCAGATGGGCGGGGGCAAGCAGGACGGGGCGGGGCTACGCGGGATCT	ENSP00000495987.1:n.20+1843_20+1956delins...