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: BTD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000403775.1:p.[Ala41_Asn42insLysArg;Asn42_Ala43insArgGlnHis;Lys44Thr;Ala46_His49delinsGlyThrAlaPro;Trp51_Cys53delinsThrAspArgArgAla;Ser55_Gly57delinsAsnCysLeuLys;Gln58_Glu59insArg;Asn61_Pro64delinsArgGly]
CA1045367713
ENST00000417015.1:c.126del