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.154997084_154997088dup , CM000685.2:g.154997084_154997088dup	GRCh38
NC_000023.10:g.154225359_154225363dup , CM000685.1:g.154225359_154225363dup	GRCh37
NC_000023.9:g.153878553_153878557dup	NCBI36
NG_011403.1:g.30636_30640dup
NG_011403.2:g.30636_30640dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.273_277dup MANE Select	ENSP00000353393.4:p.Pro93GlnfsTer?
ENST00000647125.1:c.59_63dup	ENSP00000496062.1:n.59_63dup
ENST00000360256.8:c.273_277dup	ENSP00000353393.4:p.Pro93GlnfsTer?
ENST00000423959.5:c.168_172dup	ENSP00000409446.1:p.Pro58GlnfsTer?
ENST00000453950.1:c.255_259dup	ENSP00000389153.1:p.Pro87GlnfsTer?
NM_000132.3:c.273_277dup	NP_000123.1:p.Pro93GlnfsTer?
XM_011531126.1:c.168_172dup	XP_011529428.1:p.Pro58GlnfsTer?
NM_000132.4:c.273_277dup MANE Select	NP_000123.1:p.Pro93GlnfsTer?