Canonical Allele Identifier: CA2777591002

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479596del , CM000669.2:g.117479596del	GRCh38
NC_000007.13:g.117119650del , CM000669.1:g.117119650del	GRCh37
NC_000007.12:g.116906886del	NCBI36
NG_016465.4:g.18813del , LRG_663:g.18813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-289del	ENSP00000417012.1:n.-289del
ENST00000673785.1:c.-406+13765del	ENSP00000501235.1:n.-406+13765del
ENST00000446805.1:c.-289del	ENSP00000417012.1:n.-289del
ENST00000546407.1:n.166+3788del
XM_011515751.1:c.143+251del	XP_011514053.1:n.143+251del
XM_011515752.1:c.143+251del	XP_011514054.1:n.143+251del
XM_011515753.1:c.-289del	XP_011514055.1:n.-289del
XM_011515754.1:c.-617del	XP_011514056.1:n.-617del