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_000006.12:g.143485212_143485215del , CM000668.2:g.143485212_143485215del	GRCh38
NC_000006.11:g.143806349_143806352del , CM000668.1:g.143806349_143806352del	GRCh37
NC_000006.10:g.143848042_143848045del	NCBI36
NG_008459.1:g.39432_39435del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367591.5:c.1002_1005del MANE Select	ENSP00000356563.4:p.His334GlnfsTer15
ENST00000367591.4:c.1002_1005del	ENSP00000356563.4:p.His334GlnfsTer15
ENST00000585848.1:n.141_144del
NM_003630.2:c.1002_1005del	NP_003621.1:p.His334GlnfsTer15
NM_003630.3:c.1002_1005del MANE Select	NP_003621.1:p.His334GlnfsTer15