Canonical Allele Identifier: CA706689056

Gene: FRMD6

Linked Data

• dbSNP Id: rs1176498507
• gnomAD v3: 14-51610189-A-AC
• gnomAD v4: 14-51610189-A-AC
• MyVariant Identifiers: chr14:g.52076907_52076908insC (hg19) ; chr14:g.51610189_51610190insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610192dup , CM000676.2:g.51610192dup	GRCh38
NC_000014.8:g.52076910dup , CM000676.1:g.52076910dup	GRCh37
NC_000014.7:g.51146660dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39782dup	ENSP00000348550.4:n.-147+39782dup
ENST00000554745.1:n.278-33260dup
ENST00000556137.5:n.508+39782dup
NM_001042481.2:c.-147+39782dup	NP_001035946.1:n.-147+39782dup
XM_011536423.1:c.-147+39782dup	XP_011534725.1:n.-147+39782dup
XM_011536424.1:c.-147+39782dup	XP_011534726.1:n.-147+39782dup
XM_024449472.1:c.-147+39782dup	XP_024305240.1:n.-147+39782dup
XM_024449473.1:c.-146-79499dup	XP_024305241.1:n.-146-79499dup
NM_001042481.3:c.-147+39782dup	NP_001035946.1:n.-147+39782dup