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_000004.12:g.88008156_88008163del , CM000666.2:g.88008156_88008163del	GRCh38
NC_000004.11:g.88929308_88929315del , CM000666.1:g.88929308_88929315del	GRCh37
NC_000004.10:g.89148332_89148339del	NCBI36
NG_008604.1:g.5489_5496del

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.423_430del MANE Select	ENSP00000237596.2:p.Gly142ProfsTer?
ENST00000237596.6:c.423_430del	ENSP00000237596.2:p.Gly142ProfsTer?
NM_000297.3:c.423_430del	NP_000288.1:p.Gly142ProfsTer?
XM_011532028.1:c.423_430del	XP_011530330.1:p.Gly142ProfsTer?
XR_244632.2:n.518_525del
NR_156488.1:n.510_517del
XM_011532028.2:c.423_430del	XP_011530330.1:p.Gly142ProfsTer?
NM_000297.4:c.423_430del MANE Select	NP_000288.1:p.Gly142ProfsTer?
NR_156488.2:n.522_529del