Canonical Allele Identifier: CA1737343443

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478840_117478852delinsATTAGAGGGTTGG , CM000669.2:g.117478840_117478852delinsATTAGAGGGTTGG	GRCh38
NC_000007.13:g.117118894_117118906delinsATTAGAGGGTTGG , CM000669.1:g.117118894_117118906delinsATTAGAGGGTTGG	GRCh37
NC_000007.12:g.116906130_116906142delinsATTAGAGGGTTGG	NCBI36
NG_016465.4:g.18057_18069delinsATTAGAGGGTTGG , LRG_663:g.18057_18069delinsATTAGAGGGTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-404_-525-392delinsATTAGAGGGTTGG	ENSP00000417012.1:n.-525-404_-525-392delinsATTAGAGGGTTGG
ENST00000673785.1:c.-406+13009_-406+13021delinsATTAGAGGGTTGG	ENSP00000501235.1:n.-406+13009_-406+13021delinsATTAGAGGGTTGG
ENST00000546407.1:n.166+3032_166+3044delinsATTAGAGGGTTGG
XM_011515751.1:c.42-404_42-392delinsATTAGAGGGTTGG	XP_011514053.1:n.42-404_42-392delinsATTAGAGGGTTGG
XM_011515752.1:c.42-404_42-392delinsATTAGAGGGTTGG	XP_011514054.1:n.42-404_42-392delinsATTAGAGGGTTGG
XM_011515754.1:c.-1257_-1245delinsATTAGAGGGTTGG	XP_011514056.1:n.-1257_-1245delinsATTAGAGGGTTGG