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_000004.12:g.154585706del , CM000666.2:g.154585706del	GRCh38
NC_000004.11:g.155506858del , CM000666.1:g.155506858del	GRCh37
NC_000004.10:g.155726308del	NCBI36
NG_008832.1:g.10042del , LRG_557:g.10042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651975.2:c.1725del	ENSP00000498441.1:p.Lys575AsnfsTer?
ENST00000403106.8:c.1725del MANE Select	ENSP00000385981.3:p.Lys575AsnfsTer?
ENST00000651975.1:c.1725del	ENSP00000498441.1:p.Lys575AsnfsTer?
ENST00000302053.7:c.1725del	ENSP00000306361.3:p.Lys575AsnfsTer?
ENST00000403106.7:c.1725del	ENSP00000385981.3:p.Lys575AsnfsTer?
ENST00000622532.1:c.650del	ENSP00000478487.1:p.Asn217IlefsTer10
NM_000508.3:c.1725del , LRG_557t1:c.1725del	NP_000499.1:p.Lys575AsnfsTer?
NM_021871.2:c.1725del , LRG_557t2:c.1725del	NP_068657.1:p.Lys575AsnfsTer?
NM_000508.4:c.1725del	NP_000499.1:p.Lys575AsnfsTer?
NM_021871.3:c.1725del	NP_068657.1:p.Lys575AsnfsTer?
NM_021871.4:c.1725del MANE Select	NP_068657.1:p.Lys575AsnfsTer?
NM_000508.5:c.1725del	NP_000499.1:p.Lys575AsnfsTer?