Canonical Allele Identifier: CA1737343938

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479486_117479492delinsAAGGAGG , CM000669.2:g.117479486_117479492delinsAAGGAGG	GRCh38
NC_000007.13:g.117119540_117119546delinsAAGGAGG , CM000669.1:g.117119540_117119546delinsAAGGAGG	GRCh37
NC_000007.12:g.116906776_116906782delinsAAGGAGG	NCBI36
NG_016465.4:g.18703_18709delinsAAGGAGG , LRG_663:g.18703_18709delinsAAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-399_-393delinsAAGGAGG	ENSP00000417012.1:n.-399_-393delinsAAGGAGG
ENST00000673785.1:c.-406+13655_-406+13661delinsAAGGAGG	ENSP00000501235.1:n.-406+13655_-406+13661delinsAAGGAGG
ENST00000446805.1:c.-399_-393delinsAAGGAGG	ENSP00000417012.1:n.-399_-393delinsAAGGAGG
ENST00000546407.1:n.166+3678_166+3684delinsAAGGAGG
XM_011515751.1:c.143+141_143+147delinsAAGGAGG	XP_011514053.1:n.143+141_143+147delinsAAGGAGG
XM_011515752.1:c.143+141_143+147delinsAAGGAGG	XP_011514054.1:n.143+141_143+147delinsAAGGAGG
XM_011515753.1:c.-399_-393delinsAAGGAGG	XP_011514055.1:n.-399_-393delinsAAGGAGG
XM_011515754.1:c.-727_-721delinsAAGGAGG	XP_011514056.1:n.-727_-721delinsAAGGAGG