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_000013.11:g.46860788_46860799delinsGATGGGTTACTA , CM000675.2:g.46860788_46860799delinsGATGGGTTACTA	GRCh38
NC_000013.10:g.47434923_47434934delinsGATGGGTTACTA , CM000675.1:g.47434923_47434934delinsGATGGGTTACTA	GRCh37
NC_000013.9:g.46332924_46332935delinsGATGGGTTACTA	NCBI36
NG_013011.1:g.41236_41247delinsTAGTAACCCATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000542664.4:c.614-25160_614-25149delinsTAGTAACCCATC MANE Select	ENSP00000437737.1:n.614-25160_614-25149de...
ENST00000543956.5:c.125-25160_125-25149delinsTAGTAACCCATC	ENSP00000441861.2:n.125-25160_125-25149de...
ENST00000378688.8:c.614-25160_614-25149delinsTAGTAACCCATC	ENSP00000367959.3:n.614-25160_614-25149de...
ENST00000542664.3:c.614-25160_614-25149delinsTAGTAACCCATC	ENSP00000437737.1:n.614-25160_614-25149de...
ENST00000543956.4:c.362-25160_362-25149delinsTAGTAACCCATC	ENSP00000441861.1:n.362-25160_362-25149de...
NM_000621.4:c.614-25160_614-25149delinsTAGTAACCCATC	NP_000612.1:n.614-25160_614-25149delinsTA...
NM_001165947.2:c.362-25160_362-25149delinsTAGTAACCCATC	NP_001159419.1:n.362-25160_362-25149delin...
NM_000621.5:c.614-25160_614-25149delinsTAGTAACCCATC MANE Select	NP_000612.1:n.614-25160_614-25149delinsTA...
NM_001165947.5:c.125-25160_125-25149delinsTAGTAACCCATC	NP_001159419.2:n.125-25160_125-25149delin...
NM_001378924.1:c.614-25160_614-25149delinsTAGTAACCCATC	NP_001365853.1:n.614-25160_614-25149delin...