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_000012.12:g.102894820dup , CM000674.2:g.102894820dup	GRCh38
NC_000012.11:g.103288598dup , CM000674.1:g.103288598dup	GRCh37
NC_000012.10:g.101812728dup	NCBI36
NG_008690.1:g.27783dup
NG_008690.2:g.68591dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.267dup MANE Select	ENSP00000448059.1:p.Ala90CysfsTer12
ENST00000307000.7:c.252dup	ENSP00000303500.2:p.Ala85CysfsTer12
ENST00000546844.1:c.267dup	ENSP00000446658.1:p.Ala90CysfsTer12
ENST00000548677.2:n.354dup
ENST00000548928.1:n.189dup
ENST00000549111.5:n.363dup
ENST00000550978.6:c.251dup
ENST00000551337.5:c.267dup	ENSP00000447620.1:p.Ala90CysfsTer12
ENST00000551988.5:n.356dup
ENST00000553106.5:c.267dup	ENSP00000448059.1:p.Ala90CysfsTer12
NM_000277.1:c.267dup	NP_000268.1:p.Ala90CysfsTer12
XM_011538422.1:c.267dup	XP_011536724.1:p.Ala90CysfsTer12
NM_000277.2:c.267dup	NP_000268.1:p.Ala90CysfsTer12
NM_001354304.1:c.267dup	NP_001341233.1:p.Ala90CysfsTer12
XM_017019370.2:c.267dup	XP_016874859.1:p.Ala90CysfsTer12
NM_000277.3:c.267dup MANE Select	NP_000268.1:p.Ala90CysfsTer12
NM_001354304.2:c.267dup	NP_001341233.1:p.Ala90CysfsTer12