Canonical Allele Identifier: CA1737343556

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478941_117478943delinsCAG , CM000669.2:g.117478941_117478943delinsCAG	GRCh38
NC_000007.13:g.117118995_117118997delinsCAG , CM000669.1:g.117118995_117118997delinsCAG	GRCh37
NC_000007.12:g.116906231_116906233delinsCAG	NCBI36
NG_016465.4:g.18158_18160delinsCAG , LRG_663:g.18158_18160delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-525-303_-525-301delinsCAG	ENSP00000417012.1:n.-525-303_-525-301delinsCAG
ENST00000673785.1:c.-406+13110_-406+13112delinsCAG	ENSP00000501235.1:n.-406+13110_-406+13112delinsCAG
ENST00000546407.1:n.166+3133_166+3135delinsCAG
XM_011515751.1:c.42-303_42-301delinsCAG	XP_011514053.1:n.42-303_42-301delinsCAG
XM_011515752.1:c.42-303_42-301delinsCAG	XP_011514054.1:n.42-303_42-301delinsCAG
XM_011515754.1:c.-1156_-1154delinsCAG	XP_011514056.1:n.-1156_-1154delinsCAG