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
ENSP00000499944.1:p.[Pro222del;Glu224Trp;Phe226_Asp230delinsProPheGlyThr;Glu232_Pro234delinsThrTrp;Ser236_Leu238del;Ile240_Ala244delinsPro;Asn246_Pro247del;Gly249Thr;Ile251del]
CA2831039758
ENST00000672892.1:c.665del