Canonical Allele Identifier: CA614200909

Gene: FRMD6

Linked Data

• dbSNP Id: rs141213133
• gnomAD v2: 14-52077047-CTT-C
• gnomAD v3: 14-51610329-CTT-C
• gnomAD v4: 14-51610329-CTT-C
• MyVariant Identifiers: chr14:g.52077048_52077049del (hg19) ; chr14:g.51610330_51610331del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610337_51610338del , CM000676.2:g.51610337_51610338del	GRCh38
NC_000014.8:g.52077055_52077056del , CM000676.1:g.52077055_52077056del	GRCh37
NC_000014.7:g.51146805_51146806del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+39927_-147+39928del	ENSP00000348550.4:n.-147+39927_-147+39928del
ENST00000554745.1:n.278-33115_278-33114del
ENST00000556137.5:n.508+39927_508+39928del
NM_001042481.2:c.-147+39927_-147+39928del	NP_001035946.1:n.-147+39927_-147+39928del
XM_011536423.1:c.-147+39927_-147+39928del	XP_011534725.1:n.-147+39927_-147+39928del
XM_011536424.1:c.-147+39927_-147+39928del	XP_011534726.1:n.-147+39927_-147+39928del
XM_024449472.1:c.-147+39927_-147+39928del	XP_024305240.1:n.-147+39927_-147+39928del
XM_024449473.1:c.-146-79354_-146-79353del	XP_024305241.1:n.-146-79354_-146-79353del
NM_001042481.3:c.-147+39927_-147+39928del	NP_001035946.1:n.-147+39927_-147+39928del