Canonical Allele Identifier: CA2801570133

Gene: FRMD6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610211A>T , CM000676.2:g.51610211A>T	GRCh38
NC_000014.8:g.52076929A>T , CM000676.1:g.52076929A>T	GRCh37
NC_000014.7:g.51146679A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39801A>T	ENSP00000348550.4:n.-147+39801A>T
ENST00000554745.1:n.278-33241A>T
ENST00000556137.5:n.508+39801A>T
NM_001042481.2:c.-147+39801A>T	NP_001035946.1:n.-147+39801A>T
XM_011536423.1:c.-147+39801A>T	XP_011534725.1:n.-147+39801A>T
XM_011536424.1:c.-147+39801A>T	XP_011534726.1:n.-147+39801A>T
XM_024449472.1:c.-147+39801A>T	XP_024305240.1:n.-147+39801A>T
XM_024449473.1:c.-146-79480A>T	XP_024305241.1:n.-146-79480A>T
NM_001042481.3:c.-147+39801A>T	NP_001035946.1:n.-147+39801A>T