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_000019.10:g.853116_853144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC , CM000681.2:g.853116_853144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	GRCh38
NC_000019.9:g.853116_853144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC , CM000681.1:g.853116_853144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	GRCh37
NC_000019.8:g.804116_804144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	NCBI36
NG_009627.1:g.5826_5854delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC , LRG_57:g.5826_5854delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC MANE Select	ENSP00000263621.1:n.224+84_224+112delinsT...
ENST00000263621.1:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	ENSP00000263621.1:n.224+84_224+112delinsT...
ENST00000590230.5:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	ENSP00000466090.1:n.224+84_224+112delinsT...
NM_001972.2:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC , LRG_57t1:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	NP_001963.1:n.224+84_224+112delinsTGCTGGC...
XM_011527775.1:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	XP_011526077.1:n.224+84_224+112delinsTGCT...
XM_011527776.1:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	XP_011526078.1:n.224+84_224+112delinsTGCT...
NM_001972.3:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC	NP_001963.1:n.224+84_224+112delinsTGCTGGC...
NM_001972.4:c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC MANE Select	NP_001963.1:n.224+84_224+112delinsTGCTGGC...