This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009054.6:p.[Ile1070Lys;Ser1073_Asp1078delinsThrAsnValSerIle;Asn1081_Ala1082delinsGlyVal;Trp1084delinsLeuIle;Thr1086_Ser1088delinsGlnMetProThrGly;Arg1091_Asp1092delinsThrValTyrSer;Phe1094_Thr1098delinsMetValLeuLysSer;Thr1099_Glu1100insGlnGln]
CA1220601913
NM_007123.6:c.3208_3209insAGAACTTAACTAATGTG