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.107683433_107683466delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT , CM000669.2:g.107683433_107683466delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT	GRCh38
NC_000007.13:g.107323878_107323911delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT , CM000669.1:g.107323878_107323911delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT	GRCh37
NC_000007.12:g.107111114_107111147delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT	NCBI36
NG_008489.1:g.27799_27832delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
ENST00000265715.7:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
NM_000441.1:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
XM_005250425.1:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
XM_006716025.2:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
XM_005250425.2:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
XM_006716025.3:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
XM_017012318.1:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT
NM_000441.2:c.919-22_930delinsAACATCTTTTGTTTTATTTCAGACGATAATTGCT