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_000007.14:g.107683461_107683467del , CM000669.2:g.107683461_107683467del	GRCh38
NC_000007.13:g.107323906_107323912del , CM000669.1:g.107323906_107323912del	GRCh37
NC_000007.12:g.107111142_107111148del	NCBI36
NG_008489.1:g.27827_27833del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644269.2:c.925_931del MANE Select	ENSP00000494017.1:p.Ile309LeufsTer?
ENST00000265715.7:c.925_931del	ENSP00000265715.3:p.Ile309LeufsTer?
NM_000441.1:c.925_931del	NP_000432.1:p.Ile309LeufsTer?
XM_005250425.1:c.925_931del	XP_005250482.1:p.Ile309LeufsTer?
XM_006716025.2:c.925_931del	XP_006716088.1:p.Ile309LeufsTer?
XM_005250425.2:c.925_931del	XP_005250482.1:p.Ile309LeufsTer?
XM_006716025.3:c.925_931del	XP_006716088.1:p.Ile309LeufsTer?
XM_017012318.1:c.925_931del	XP_016867807.1:p.Ile309LeufsTer?
NM_000441.2:c.925_931del MANE Select	NP_000432.1:p.Ile309LeufsTer?