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_000014.9:g.23433558_23433559insCCTC , CM000676.2:g.23433558_23433559insCCTC	GRCh38
NC_000014.8:g.23902767_23902768insCCTC , CM000676.1:g.23902767_23902768insCCTC	GRCh37
NC_000014.7:g.22972607_22972608insCCTC	NCBI36
NG_007884.1:g.7104_7105insAGGG , LRG_384:g.7104_7105insAGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.175_176insAGGG MANE Select	ENSP00000347507.3:p.Val59GlufsTer?
ENST00000355349.3:c.175_176insAGGG	ENSP00000347507.3:p.Val59GlufsTer?
NM_000257.3:c.175_176insAGGG	NP_000248.2:p.Val59GlufsTer?
XR_245686.3:n.281_282insAGGG
XM_017021340.1:c.175_176insAGGG	XP_016876829.1:p.Val59GlufsTer?
NM_000257.4:c.175_176insAGGG MANE Select	NP_000248.2:p.Val59GlufsTer?