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.102866611_102866612insA , CM000674.2:g.102866611_102866612insA	GRCh38
NC_000012.11:g.103260389_103260390insA , CM000674.1:g.103260389_103260390insA	GRCh37
NC_000012.10:g.101784519_101784520insA	NCBI36
NG_008690.1:g.55991_55992insT
NG_008690.2:g.96799_96800insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.493_494insT MANE Select	ENSP00000448059.1:p.Ala165ValfsTer?
ENST00000307000.7:c.478_479insT	ENSP00000303500.2:p.Ala160ValfsTer?
ENST00000549111.5:n.589_590insT
ENST00000551988.5:n.530+10850_530+10851insT
ENST00000553106.5:c.493_494insT	ENSP00000448059.1:p.Ala165ValfsTer?
NM_000277.1:c.493_494insT	NP_000268.1:p.Ala165ValfsTer?
XM_011538422.1:c.493_494insT	XP_011536724.1:p.Ala165ValfsTer?
NM_000277.2:c.493_494insT	NP_000268.1:p.Ala165ValfsTer?
NM_001354304.1:c.493_494insT	NP_001341233.1:p.Ala165ValfsTer?
XM_017019370.2:c.493_494insT	XP_016874859.1:p.Ala165ValfsTer?
NM_000277.3:c.493_494insT MANE Select	NP_000268.1:p.Ala165ValfsTer?
NM_001354304.2:c.493_494insT	NP_001341233.1:p.Ala165ValfsTer?