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_000013.11:g.20189078_20189079insCTTC , CM000675.2:g.20189078_20189079insCTTC	GRCh38
NC_000013.10:g.20763217_20763218insCTTC , CM000675.1:g.20763217_20763218insCTTC	GRCh37
NC_000013.9:g.19661217_19661218insCTTC	NCBI36
NG_008358.1:g.8898_8899insAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.504_505insAAGG	ENSP00000372295.1:p.Cys169LysfsTer?
ENST00000382848.5:c.504_505insAAGG MANE Select	ENSP00000372299.4:p.Cys169LysfsTer?
ENST00000382844.1:c.504_505insAAGG	ENSP00000372295.1:p.Cys169LysfsTer?
ENST00000382848.4:c.504_505insAAGG	ENSP00000372299.4:p.Cys169LysfsTer?
NM_004004.5:c.504_505insAAGG	NP_003995.2:p.Cys169LysfsTer?
XM_011535049.1:c.504_505insAAGG	XP_011533351.1:p.Cys169LysfsTer?
XM_011535049.2:c.504_505insAAGG	XP_011533351.1:p.Cys169LysfsTer?
NM_004004.6:c.504_505insAAGG MANE Select	NP_003995.2:p.Cys169LysfsTer?