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.100407071_100407077del , CM000685.2:g.100407071_100407077del	GRCh38
NC_000023.10:g.99662069_99662075del , CM000685.1:g.99662069_99662075del	GRCh37
NC_000023.9:g.99548725_99548731del	NCBI36
NG_021319.1:g.8198_8204del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255531.8:c.1522_1528del	ENSP00000255531.7:p.Ile508ProfsTer?
ENST00000373034.8:c.1522_1528del MANE Select	ENSP00000362125.4:p.Ile508ProfsTer?
ENST00000420881.6:c.1522_1528del	ENSP00000400327.2:p.Ile508ProfsTer?
NM_001105243.1:c.1522_1528del	NP_001098713.1:p.Ile508ProfsTer?
NM_001184880.1:c.1522_1528del	NP_001171809.1:p.Ile508ProfsTer?
NM_020766.2:c.1522_1528del	NP_065817.2:p.Ile508ProfsTer?
XM_011530997.1:c.1522_1528del	XP_011529299.1:p.Ile508ProfsTer?
XM_011530997.2:c.1522_1528del	XP_011529299.1:p.Ile508ProfsTer?
NM_001105243.2:c.1522_1528del	NP_001098713.1:p.Ile508ProfsTer?
NM_001184880.2:c.1522_1528del MANE Select	NP_001171809.1:p.Ile508ProfsTer?
NM_020766.3:c.1522_1528del	NP_065817.2:p.Ile508ProfsTer?