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_000010.11:g.94762806_94762807insCCTAC , CM000672.2:g.94762806_94762807insCCTAC	GRCh38
NC_000010.10:g.96522563_96522564insCCTAC , CM000672.1:g.96522563_96522564insCCTAC	GRCh37
NC_000010.9:g.96512553_96512554insCCTAC	NCBI36
NG_008384.2:g.5101_5102insCCTAC
NG_008384.3:g.5126_5127insCCTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000371321.9:c.101_102insCCTAC MANE Select	ENSP00000360372.3:p.Pro35LeufsTer6
ENST00000371321.7:c.101_102insCCTAC	ENSP00000360372.3:p.Pro35LeufsTer6
ENST00000464755.1:c.932-12252_932-12251insCCTAC	ENSP00000483243.1:n.932-12252_932-12251in...
ENST00000480405.2:c.101_102insCCTAC	ENSP00000483847.1:p.Pro35LeufsTer6
NM_000769.2:c.101_102insCCTAC	NP_000760.1:p.Pro35LeufsTer6
NM_000769.4:c.101_102insCCTAC MANE Select	NP_000760.1:p.Pro35LeufsTer6