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.154837690_154837693dup , CM000685.2:g.154837690_154837693dup	GRCh38
NC_000023.10:g.154065965_154065968dup , CM000685.1:g.154065965_154065968dup	GRCh37
NC_000023.9:g.153719159_153719162dup	NCBI36
NG_011403.1:g.190034_190037dup
NG_033065.1:g.1973_1976dup
NG_011403.2:g.190034_190037dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6963_6966dup MANE Select	ENSP00000353393.4:p.Arg2323AspfsTer?
ENST00000644698.1:c.696_699dup	ENSP00000495706.1:p.Arg234AspfsTer?
ENST00000330287.10:c.558_561dup	ENSP00000327895.6:p.Arg188AspfsTer?
ENST00000360256.8:c.6963_6966dup	ENSP00000353393.4:p.Arg2323AspfsTer?
NM_000132.3:c.6963_6966dup	NP_000123.1:p.Arg2323AspfsTer?
NM_019863.2:c.558_561dup	NP_063916.1:p.Arg188AspfsTer?
XM_011531126.1:c.6858_6861dup	XP_011529428.1:p.Arg2288AspfsTer?
NM_000132.4:c.6963_6966dup MANE Select	NP_000123.1:p.Arg2323AspfsTer?
NM_019863.3:c.558_561dup	NP_063916.1:p.Arg188AspfsTer?