×
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_000015.10:g.73322875_73322902delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT , CM000677.2:g.73322875_73322902delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT
GRCh38
NC_000015.9:g.73615216_73615243delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT , CM000677.1:g.73615216_73615243delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT
GRCh37
NC_000015.8:g.71402269_71402296delinsGGGGGTGTGCCCCGGCGCTGGGGGACCT
NCBI36
NG_009063.1:g.51363_51390delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
MANE Select
ENSP00000261917.3:p.Gln1064=
ENST00000261917.3:c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
ENSP00000261917.3:p.Gln1064=
NM_005477.2:c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
NP_005468.1:p.Gln1064=
XM_011521148.1:c.1973_2000delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
XP_011519450.1:p.Gln658=
XM_011521148.2:c.1973_2000delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
XP_011519450.1:p.Gln658=
NM_005477.3:c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC
MANE Select
NP_005468.1:p.Gln1064=