Canonical Allele Identifier: CA919418227
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1566501103

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610203del , CM000676.2:g.51610203del GRCh38
NC_000014.8:g.52076921del , CM000676.1:g.52076921del GRCh37
NC_000014.7:g.51146671del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356218.8:c.-147+39793del ENSP00000348550.4:n.-147+39793del
ENST00000554745.1:n.278-33249del
ENST00000556137.5:n.508+39793del
NM_001042481.2:c.-147+39793del NP_001035946.1:n.-147+39793del
XM_011536423.1:c.-147+39793del XP_011534725.1:n.-147+39793del
XM_011536424.1:c.-147+39793del XP_011534726.1:n.-147+39793del
XM_024449472.1:c.-147+39793del XP_024305240.1:n.-147+39793del
XM_024449473.1:c.-146-79488del XP_024305241.1:n.-146-79488del
NM_001042481.3:c.-147+39793del NP_001035946.1:n.-147+39793del