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_000023.11:g.139561853del , CM000685.2:g.139561853del	GRCh38
NC_000023.10:g.138644012del , CM000685.1:g.138644012del	GRCh37
NC_000023.9:g.138471678del	NCBI36
NG_007994.1:g.36118del , LRG_556:g.36118del

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1168del MANE Select	ENSP00000218099.2:p.Ile390SerfsTer?
ENST00000643157.1:n.1723+112del
ENST00000218099.6:c.1168del	ENSP00000218099.2:p.Ile390SerfsTer?
ENST00000394090.2:c.1054del	ENSP00000377650.2:p.Ile352SerfsTer?
NM_000133.3:c.1168del , LRG_556t1:c.1168del	NP_000124.1:p.Ile390SerfsTer?
NM_001313913.1:c.1054del	NP_001300842.1:p.Ile352SerfsTer?
XM_005262397.3:c.1039del	XP_005262454.1:p.Ile347SerfsTer?
XM_005262397.4:c.1039del	XP_005262454.1:p.Ile347SerfsTer?
NM_000133.4:c.1168del MANE Select	NP_000124.1:p.Ile390SerfsTer?
NM_001313913.2:c.1054del	NP_001300842.1:p.Ile352SerfsTer?