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_000010.11:g.104072070del , CM000672.2:g.104072070del	GRCh38
NC_000010.10:g.105831828del , CM000672.1:g.105831828del	GRCh37
NC_000010.9:g.105821818del	NCBI36
NG_007069.1:g.18812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.426del	ENSP00000358748.3:p.Arg143GlufsTer?
ENST00000648076.2:c.426del MANE Select	ENSP00000497653.1:p.Arg143GlufsTer?
ENST00000649118.1:n.541del
ENST00000650263.1:c.378del	ENSP00000497850.1:p.Arg127GlufsTer?
ENST00000353479.9:c.426del	ENSP00000340937.5:p.Arg143GlufsTer?
ENST00000369733.7:c.426del	ENSP00000358748.3:p.Arg143GlufsTer?
ENST00000393211.3:c.426del	ENSP00000376905.3:p.Arg143GlufsTer?
ENST00000483876.1:n.476del
NM_000494.3:c.426del	NP_000485.3:p.Arg143GlufsTer?
NM_000494.4:c.426del MANE Select	NP_000485.3:p.Arg143GlufsTer?