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.102844341dup , CM000674.2:g.102844341dup	GRCh38
NC_000012.11:g.103238119dup , CM000674.1:g.103238119dup	GRCh37
NC_000012.10:g.101762249dup	NCBI36
NG_008690.1:g.78263dup
NG_008690.2:g.119071dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1061dup MANE Select	ENSP00000448059.1:p.Leu354PhefsTer?
ENST00000307000.7:c.1046dup	ENSP00000303500.2:p.Leu349PhefsTer?
ENST00000549247.6:n.820dup
ENST00000551114.2:n.723dup
ENST00000553106.5:c.1061dup	ENSP00000448059.1:p.Leu354PhefsTer?
ENST00000635477.1:c.165dup
ENST00000635528.1:n.576dup
NM_000277.1:c.1061dup	NP_000268.1:p.Leu354PhefsTer?
XM_011538422.1:c.1004dup	XP_011536724.1:p.Leu335PhefsTer?
NM_000277.2:c.1061dup	NP_000268.1:p.Leu354PhefsTer?
NM_001354304.1:c.1061dup	NP_001341233.1:p.Leu354PhefsTer?
NM_000277.3:c.1061dup MANE Select	NP_000268.1:p.Leu354PhefsTer?
NM_001354304.2:c.1061dup	NP_001341233.1:p.Leu354PhefsTer?