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_000003.12:g.138946012_138946051del , CM000665.2:g.138946012_138946051del	GRCh38
NC_000003.11:g.138664854_138664893del , CM000665.1:g.138664854_138664893del	GRCh37
NC_000003.10:g.140147544_140147583del	NCBI36
NG_012454.1:g.6093_6132del
NG_029796.1:g.3779_3818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000648323.1:c.675_714del MANE Select	ENSP00000497217.1:p.Ala226LeufsTer?
ENST00000330315.3:c.675_714del	ENSP00000333188.3:p.Ala226LeufsTer?
NM_023067.3:c.675_714del	NP_075555.1:p.Ala226LeufsTer?
NM_023067.4:c.675_714del MANE Select	NP_075555.1:p.Ala226LeufsTer?