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.89837889_89837918delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC , CM000666.2:g.89837889_89837918delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC	GRCh38
NC_000004.11:g.90759040_90759069delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC , CM000666.1:g.90759040_90759069delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC	GRCh37
NC_000004.10:g.90978063_90978092delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC	NCBI36
NG_011851.1:g.5379_5408delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000336904.7:c.-26+334_-26+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	ENSP00000338345.3:n.-26+334_-26+363delins...
NM_001146055.1:c.-26+334_-26+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	NP_001139527.1:n.-26+334_-26+363delinsGGG...
NR_045481.1:n.335-372_335-343delinsAATCAGCGCCTGCCAGACGCTGATTTTCCC (SNCA-AS1)
XM_011532205.1:c.-26+334_-26+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	XP_011530507.1:n.-26+334_-26+363delinsGGG...
XM_011532205.2:c.-26+334_-26+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	XP_011530507.1:n.-26+334_-26+363delinsGGG...
NM_001146055.2:c.-26+334_-26+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	NP_001139527.1:n.-26+334_-26+363delinsGGG...
NM_001375285.1:c.-95+334_-95+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)	NP_001362214.1:n.-95+334_-95+363delinsGGG...
NR_164674.1:n.53+334_53+363delinsGGGAAAATCAGCGTCTGGCAGGCGCTGATT (SNCA)