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_000002.12:g.240869081_240869082insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC , CM000664.2:g.240869081_240869082insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC	GRCh38
NC_000002.11:g.241808498_241808499insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC , CM000664.1:g.241808498_241808499insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC	GRCh37
NC_000002.10:g.241457171_241457172insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC	NCBI36
NG_008005.1:g.5337_5338insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC MANE Select	ENSP00000302620.3:n.165+51_165+52insGCAGA...
ENST00000307503.3:c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC	ENSP00000302620.3:n.165+51_165+52insGCAGA...
ENST00000472436.1:n.185+51_185+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC
NM_000030.2:c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC	NP_000021.1:n.165+51_165+52insGCAGATCGTGG...
XR_924060.1:n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGCGGGTGGG
NM_000030.3:c.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC MANE Select	NP_000021.1:n.165+51_165+52insGCAGATCGTGG...