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_000002.12:g.31531304_31531316delinsACCATAGCATCAT , CM000664.2:g.31531304_31531316delinsACCATAGCATCAT	GRCh38
NC_000002.11:g.31756374_31756386delinsACCATAGCATCAT , CM000664.1:g.31756374_31756386delinsACCATAGCATCAT	GRCh37
NC_000002.10:g.31609878_31609890delinsACCATAGCATCAT	NCBI36
NG_008365.1:g.54656_54668delinsATGATGCTATGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.547+55_547+67delinsATGATGCTATGGT MANE Select	ENSP00000477587.1:n.547+55_547+67delinsAT...
ENST00000622030.1:c.547+55_547+67delinsATGATGCTATGGT	ENSP00000477587.1:n.547+55_547+67delinsAT...
NM_000348.3:c.547+55_547+67delinsATGATGCTATGGT	NP_000339.2:n.547+55_547+67delinsATGATGCT...
XM_011533069.1:c.325+55_325+67delinsATGATGCTATGGT	XP_011531371.1:n.325+55_325+67delinsATGAT...
XM_011533070.1:c.292+55_292+67delinsATGATGCTATGGT	XP_011531372.1:n.292+55_292+67delinsATGAT...
XM_011533071.1:c.292+55_292+67delinsATGATGCTATGGT	XP_011531373.1:n.292+55_292+67delinsATGAT...
XM_011533072.1:c.292+55_292+67delinsATGATGCTATGGT	XP_011531374.1:n.292+55_292+67delinsATGAT...
XM_011533069.2:c.325+55_325+67delinsATGATGCTATGGT	XP_011531371.1:n.325+55_325+67delinsATGAT...
XM_011533072.2:c.292+55_292+67delinsATGATGCTATGGT	XP_011531374.1:n.292+55_292+67delinsATGAT...
NM_000348.4:c.547+55_547+67delinsATGATGCTATGGT MANE Select	NP_000339.2:n.547+55_547+67delinsATGATGCT...