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.154860454_154860455del , CM000685.2:g.154860454_154860455del	GRCh38
NC_000023.10:g.154088729_154088730del , CM000685.1:g.154088729_154088730del	GRCh37
NC_000023.9:g.153741923_153741924del	NCBI36
NG_011403.1:g.167273_167274del
NG_011403.2:g.167273_167274del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6881_6882del MANE Select	ENSP00000353393.4:p.Phe2294SerfsTer?
ENST00000644698.1:c.614_615del	ENSP00000495706.1:p.Phe205SerfsTer?
ENST00000330287.10:c.476_477del	ENSP00000327895.6:p.Phe159SerfsTer?
ENST00000360256.8:c.6881_6882del	ENSP00000353393.4:p.Phe2294SerfsTer?
NM_000132.3:c.6881_6882del	NP_000123.1:p.Phe2294SerfsTer?
NM_019863.2:c.476_477del	NP_063916.1:p.Phe159SerfsTer?
XM_011531126.1:c.6776_6777del	XP_011529428.1:p.Phe2259SerfsTer?
NM_000132.4:c.6881_6882del MANE Select	NP_000123.1:p.Phe2294SerfsTer?
NM_019863.3:c.476_477del	NP_063916.1:p.Phe159SerfsTer?