Canonical Allele Identifier: CA1737344256

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479823_117479834delinsGGGGTGCGTAGT , CM000669.2:g.117479823_117479834delinsGGGGTGCGTAGT	GRCh38
NC_000007.13:g.117119877_117119888delinsGGGGTGCGTAGT , CM000669.1:g.117119877_117119888delinsGGGGTGCGTAGT	GRCh37
NC_000007.12:g.116907113_116907124delinsGGGGTGCGTAGT	NCBI36
NG_016465.4:g.19040_19051delinsGGGGTGCGTAGT , LRG_663:g.19040_19051delinsGGGGTGCGTAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+129_-191+140delinsGGGGTGCGTAGT	ENSP00000417012.1:n.-191+129_-191+140deli...
ENST00000673785.1:c.-406+13992_-406+14003delinsGGGGTGCGTAGT	ENSP00000501235.1:n.-406+13992_-406+14003...
ENST00000446805.1:c.-191+129_-191+140delinsGGGGTGCGTAGT	ENSP00000417012.1:n.-191+129_-191+140deli...
ENST00000546407.1:n.166+4015_166+4026delinsGGGGTGCGTAGT
XM_011515751.1:c.143+478_143+489delinsGGGGTGCGTAGT	XP_011514053.1:n.143+478_143+489delinsGGG...
XM_011515752.1:c.143+478_143+489delinsGGGGTGCGTAGT	XP_011514054.1:n.143+478_143+489delinsGGG...
XM_011515753.1:c.-191+129_-191+140delinsGGGGTGCGTAGT	XP_011514055.1:n.-191+129_-191+140delinsG...
XM_011515754.1:c.-519+129_-519+140delinsGGGGTGCGTAGT	XP_011514056.1:n.-519+129_-519+140delinsG...