Canonical Allele Identifier: CA2523103322

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479949_117479955del , CM000669.2:g.117479949_117479955del	GRCh38
NC_000007.13:g.117120003_117120009del , CM000669.1:g.117120003_117120009del	GRCh37
NC_000007.12:g.116907239_116907245del	NCBI36
NG_016465.4:g.19166_19172del , LRG_663:g.19166_19172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+255_-191+261del	ENSP00000417012.1:n.-191+255_-191+261del
ENST00000673785.1:c.-406+14118_-406+14124del	ENSP00000501235.1:n.-406+14118_-406+14124del
ENST00000446805.1:c.-191+255_-191+261del	ENSP00000417012.1:n.-191+255_-191+261del
ENST00000546407.1:n.166+4141_166+4147del
XM_011515751.1:c.143+604_143+610del	XP_011514053.1:n.143+604_143+610del
XM_011515752.1:c.143+604_143+610del	XP_011514054.1:n.143+604_143+610del
XM_011515753.1:c.-191+255_-191+261del	XP_011514055.1:n.-191+255_-191+261del
XM_011515754.1:c.-518-199_-518-193del	XP_011514056.1:n.-518-199_-518-193del