Canonical Allele Identifier: CA1737343639

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479051_117479053delinsCTG , CM000669.2:g.117479051_117479053delinsCTG	GRCh38
NC_000007.13:g.117119105_117119107delinsCTG , CM000669.1:g.117119105_117119107delinsCTG	GRCh37
NC_000007.12:g.116906341_116906343delinsCTG	NCBI36
NG_016465.4:g.18268_18270delinsCTG , LRG_663:g.18268_18270delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-193_-525-191delinsCTG	ENSP00000417012.1:n.-525-193_-525-191delinsCTG
ENST00000673785.1:c.-406+13220_-406+13222delinsCTG	ENSP00000501235.1:n.-406+13220_-406+13222delinsCTG
ENST00000546407.1:n.166+3243_166+3245delinsCTG
XM_011515751.1:c.42-193_42-191delinsCTG	XP_011514053.1:n.42-193_42-191delinsCTG
XM_011515752.1:c.42-193_42-191delinsCTG	XP_011514054.1:n.42-193_42-191delinsCTG
XM_011515754.1:c.-1046_-1044delinsCTG	XP_011514056.1:n.-1046_-1044delinsCTG