Canonical Allele Identifier: CA592244893

Gene: FRMD4A

Linked Data

• dbSNP Id: rs1388445096
• gnomAD v2: 10-14478973-A-ATC
• gnomAD v3: 10-14436974-A-ATC
• gnomAD v4: 10-14436974-A-ATC
• MyVariant Identifiers: chr10:g.14478975_14478976insTC (hg19) ; chr10:g.14478973_14478974insTC (hg19) ; chr10:g.14436976_14436977insTC (hg38) ; chr10:g.14436974_14436975insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14436986_14436987dup , CM000672.2:g.14436986_14436987dup	GRCh38
NC_000010.10:g.14478985_14478986dup , CM000672.1:g.14478985_14478986dup	GRCh37
NC_000010.9:g.14518991_14518992dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475141.2:c.-305+25092_-305+25093dup	ENSP00000473870.1:n.-305+25092_-305+25093dup
ENST00000493380.5:c.-82+25092_-82+25093dup	ENSP00000474863.1:n.-82+25092_-82+25093dup