Canonical Allele Identifier: CA2136729501

Gene: FRMD6

Linked Data

• dbSNP Id: rs1594599269

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610465_51610466insTGACTTTTCTTTCAACCCATGGTTGTGGC , CM000676.2:g.51610465_51610466insTGACTTTTCTTTCAACCCATGGTTGTGGC	GRCh38
NC_000014.8:g.52077183_52077184insTGACTTTTCTTTCAACCCATGGTTGTGGC , CM000676.1:g.52077183_52077184insTGACTTTTCTTTCAACCCATGGTTGTGGC	GRCh37
NC_000014.7:g.51146933_51146934insTGACTTTTCTTTCAACCCATGGTTGTGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	ENSP00000348550.4:n.-147+40055_-147+40056insTGACTTTTCTTTCAACC...
ENST00000554745.1:n.278-32987_278-32986insTGACTTTTCTTTCAACCCATGGTTGTGGC
ENST00000556137.5:n.508+40055_508+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC
NM_001042481.2:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	NP_001035946.1:n.-147+40055_-147+40056insTGACTTTTCTTTCAACCCAT...
XM_011536423.1:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	XP_011534725.1:n.-147+40055_-147+40056insTGACTTTTCTTTCAACCCAT...
XM_011536424.1:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	XP_011534726.1:n.-147+40055_-147+40056insTGACTTTTCTTTCAACCCAT...
XM_024449472.1:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	XP_024305240.1:n.-147+40055_-147+40056insTGACTTTTCTTTCAACCCAT...
XM_024449473.1:c.-146-79226_-146-79225insTGACTTTTCTTTCAACCCATGGTTGTGGC	XP_024305241.1:n.-146-79226_-146-79225insTGACTTTTCTTTCAACCCAT...
NM_001042481.3:c.-147+40055_-147+40056insTGACTTTTCTTTCAACCCATGGTTGTGGC	NP_001035946.1:n.-147+40055_-147+40056insTGACTTTTCTTTCAACCCAT...