Canonical Allele Identifier: CA963110733

Gene: FRMD6

Linked Data

• gnomAD v3: 14-51610328-C-CT
• gnomAD v4: 14-51610328-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610328_51610329insT , CM000676.2:g.51610328_51610329insT	GRCh38
NC_000014.8:g.52077046_52077047insT , CM000676.1:g.52077046_52077047insT	GRCh37
NC_000014.7:g.51146796_51146797insT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+39918_-147+39919insT	ENSP00000348550.4:n.-147+39918_-147+39919insT
ENST00000554745.1:n.278-33124_278-33123insT
ENST00000556137.5:n.508+39918_508+39919insT
NM_001042481.2:c.-147+39918_-147+39919insT	NP_001035946.1:n.-147+39918_-147+39919insT
XM_011536423.1:c.-147+39918_-147+39919insT	XP_011534725.1:n.-147+39918_-147+39919insT
XM_011536424.1:c.-147+39918_-147+39919insT	XP_011534726.1:n.-147+39918_-147+39919insT
XM_024449472.1:c.-147+39918_-147+39919insT	XP_024305240.1:n.-147+39918_-147+39919insT
XM_024449473.1:c.-146-79363_-146-79362insT	XP_024305241.1:n.-146-79363_-146-79362insT
NM_001042481.3:c.-147+39918_-147+39919insT	NP_001035946.1:n.-147+39918_-147+39919insT