Canonical Allele Identifier: CA2136729350

Gene: FRMD6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610329_51610331delinsCTT , CM000676.2:g.51610329_51610331delinsCTT	GRCh38
NC_000014.8:g.52077047_52077049delinsCTT , CM000676.1:g.52077047_52077049delinsCTT	GRCh37
NC_000014.7:g.51146797_51146799delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39919_-147+39921delinsCTT	ENSP00000348550.4:n.-147+39919_-147+39921delinsCTT
ENST00000554745.1:n.278-33123_278-33121delinsCTT
ENST00000556137.5:n.508+39919_508+39921delinsCTT
NM_001042481.2:c.-147+39919_-147+39921delinsCTT	NP_001035946.1:n.-147+39919_-147+39921delinsCTT
XM_011536423.1:c.-147+39919_-147+39921delinsCTT	XP_011534725.1:n.-147+39919_-147+39921delinsCTT
XM_011536424.1:c.-147+39919_-147+39921delinsCTT	XP_011534726.1:n.-147+39919_-147+39921delinsCTT
XM_024449472.1:c.-147+39919_-147+39921delinsCTT	XP_024305240.1:n.-147+39919_-147+39921delinsCTT
XM_024449473.1:c.-146-79362_-146-79360delinsCTT	XP_024305241.1:n.-146-79362_-146-79360delinsCTT
NM_001042481.3:c.-147+39919_-147+39921delinsCTT	NP_001035946.1:n.-147+39919_-147+39921delinsCTT