Canonical Allele Identifier: CA2136729338

Gene: FRMD6

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.51610316_51610331delinsCTTTTTTTAATCCCTT , CM000676.2:g.51610316_51610331delinsCTTTTTTTAATCCCTT	GRCh38
NC_000014.8:g.52077034_52077049delinsCTTTTTTTAATCCCTT , CM000676.1:g.52077034_52077049delinsCTTTTTTTAATCCCTT	GRCh37
NC_000014.7:g.51146784_51146799delinsCTTTTTTTAATCCCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356218.8:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	ENSP00000348550.4:n.-147+39906_-147+39921...
ENST00000554745.1:n.278-33136_278-33121delinsCTTTTTTTAATCCCTT
ENST00000556137.5:n.508+39906_508+39921delinsCTTTTTTTAATCCCTT
NM_001042481.2:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	NP_001035946.1:n.-147+39906_-147+39921del...
XM_011536423.1:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	XP_011534725.1:n.-147+39906_-147+39921del...
XM_011536424.1:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	XP_011534726.1:n.-147+39906_-147+39921del...
XM_024449472.1:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	XP_024305240.1:n.-147+39906_-147+39921del...
XM_024449473.1:c.-146-79375_-146-79360delinsCTTTTTTTAATCCCTT	XP_024305241.1:n.-146-79375_-146-79360del...
NM_001042481.3:c.-147+39906_-147+39921delinsCTTTTTTTAATCCCTT	NP_001035946.1:n.-147+39906_-147+39921del...