Canonical Allele Identifier: CA706655986

Gene: FRMD6

Linked Data

• dbSNP Id: rs1555327247
• MyVariant Identifiers: chr14:g.52077044_52077045insA (hg19) ; chr14:g.51610326_51610327insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610326_51610327insA , CM000676.2:g.51610326_51610327insA	GRCh38
NC_000014.8:g.52077044_52077045insA , CM000676.1:g.52077044_52077045insA	GRCh37
NC_000014.7:g.51146794_51146795insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+39916_-147+39917insA	ENSP00000348550.4:n.-147+39916_-147+39917insA
ENST00000554745.1:n.278-33126_278-33125insA
ENST00000556137.5:n.508+39916_508+39917insA
NM_001042481.2:c.-147+39916_-147+39917insA	NP_001035946.1:n.-147+39916_-147+39917insA
XM_011536423.1:c.-147+39916_-147+39917insA	XP_011534725.1:n.-147+39916_-147+39917insA
XM_011536424.1:c.-147+39916_-147+39917insA	XP_011534726.1:n.-147+39916_-147+39917insA
XM_024449472.1:c.-147+39916_-147+39917insA	XP_024305240.1:n.-147+39916_-147+39917insA
XM_024449473.1:c.-146-79365_-146-79364insA	XP_024305241.1:n.-146-79365_-146-79364insA
NM_001042481.3:c.-147+39916_-147+39917insA	NP_001035946.1:n.-147+39916_-147+39917insA