Canonical Allele Identifier: CA1737361749

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534360_117534367delinsGATGAAGT , CM000669.2:g.117534360_117534367delinsGATGAAGT	GRCh38
NC_000007.13:g.117174414_117174421delinsGATGAAGT , CM000669.1:g.117174414_117174421delinsGATGAAGT	GRCh37
NC_000007.12:g.116961650_116961657delinsGATGAAGT	NCBI36
NG_016465.4:g.73577_73584delinsGATGAAGT , LRG_663:g.73577_73584delinsGATGAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.574_579+2delinsGATGAAGT
ENST00000647978.2:c.*471_*476+2delinsGATGAAGT
ENST00000649781.2:c.574_579+2delinsGATGAAGT
ENST00000685018.2:c.574_579+2delinsGATGAAGT
ENST00000687278.2:c.574_579+2delinsGATGAAGT
ENST00000699585.1:c.574_579+2delinsGATGAAGT
ENST00000699596.1:c.574_579+2delinsGATGAAGT
ENST00000699597.1:c.574_579+2delinsGATGAAGT
ENST00000699598.1:c.574_579+2delinsGATGAAGT
ENST00000699599.1:c.574_579+2delinsGATGAAGT
ENST00000699600.1:c.574_579+2delinsGATGAAGT
ENST00000699601.1:c.574_579+2delinsGATGAAGT
ENST00000699602.1:c.574_579+2delinsGATGAAGT
ENST00000699604.1:c.*398_*403+2delinsGATGAAGT
ENST00000699605.1:c.331_336+2delinsGATGAAGT
ENST00000003084.11:c.574_579+2delinsGATGAAGT
ENST00000647978.1:c.*471_*476+2delinsGATGAAGT
ENST00000648260.1:c.574_579+2delinsGATGAAGT
ENST00000649406.1:c.574_579+2delinsGATGAAGT
ENST00000649781.1:c.574_579+2delinsGATGAAGT
ENST00000673785.1:c.331_336+2delinsGATGAAGT
ENST00000003084.10:c.574_579+2delinsGATGAAGT
ENST00000426809.5:c.490-888_490-881delinsGATGAAGT	ENSP00000389119.1:n.490-888_490-881delinsGATGAAGT
NM_000492.3:c.574_579+2delinsGATGAAGT , LRG_663t1:c.574_579+2delinsGATGAAGT
XM_011515751.1:c.664_669+2delinsGATGAAGT
XM_011515752.1:c.664_669+2delinsGATGAAGT
XM_011515753.1:c.331_336+2delinsGATGAAGT
XM_011515754.1:c.331_336+2delinsGATGAAGT
NM_000492.4:c.574_579+2delinsGATGAAGT