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_000017.11:g.41583696_41583697insGCG , CM000679.2:g.41583696_41583697insGCG	GRCh38
NC_000017.10:g.39739948_39739949insGCG , CM000679.1:g.39739948_39739949insGCG	GRCh37
NC_000017.9:g.36993474_36993475insGCG	NCBI36
NG_008624.1:g.8199_8200insCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.928-21_928-20insCGC MANE Select	ENSP00000167586.6:n.928-21_928-20insCGC
ENST00000167586.6:c.928-21_928-20insCGC	ENSP00000167586.6:n.928-21_928-20insCGC
ENST00000476662.1:n.378-21_378-20insCGC
NM_000526.4:c.928-21_928-20insCGC	NP_000517.2:n.928-21_928-20insCGC
NM_000526.5:c.928-21_928-20insCGC MANE Select	NP_000517.3:n.928-21_928-20insCGC