Canonical Allele Identifier: CA706656204

Gene: FRMD6

Linked Data

• dbSNP Id: rs1211996183
• gnomAD v3: 14-51610487-CA-C
• gnomAD v4: 14-51610487-CA-C
• MyVariant Identifiers: chr14:g.52077206del (hg19) ; chr14:g.51610488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610490del , CM000676.2:g.51610490del	GRCh38
NC_000014.8:g.52077208del , CM000676.1:g.52077208del	GRCh37
NC_000014.7:g.51146958del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356218.8:c.-147+40080del	ENSP00000348550.4:n.-147+40080del
ENST00000554745.1:n.278-32962del
ENST00000556137.5:n.508+40080del
NM_001042481.2:c.-147+40080del	NP_001035946.1:n.-147+40080del
XM_011536423.1:c.-147+40080del	XP_011534725.1:n.-147+40080del
XM_011536424.1:c.-147+40080del	XP_011534726.1:n.-147+40080del
XM_024449472.1:c.-147+40080del	XP_024305240.1:n.-147+40080del
XM_024449473.1:c.-146-79201del	XP_024305241.1:n.-146-79201del
NM_001042481.3:c.-147+40080del	NP_001035946.1:n.-147+40080del