Canonical Allele Identifier: CA1737343660

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479103_117479104delinsAT , CM000669.2:g.117479103_117479104delinsAT	GRCh38
NC_000007.13:g.117119157_117119158delinsAT , CM000669.1:g.117119157_117119158delinsAT	GRCh37
NC_000007.12:g.116906393_116906394delinsAT	NCBI36
NG_016465.4:g.18320_18321delinsAT , LRG_663:g.18320_18321delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-141_-525-140delinsAT	ENSP00000417012.1:n.-525-141_-525-140delinsAT
ENST00000673785.1:c.-406+13272_-406+13273delinsAT	ENSP00000501235.1:n.-406+13272_-406+13273delinsAT
ENST00000546407.1:n.166+3295_166+3296delinsAT
XM_011515751.1:c.42-141_42-140delinsAT	XP_011514053.1:n.42-141_42-140delinsAT
XM_011515752.1:c.42-141_42-140delinsAT	XP_011514054.1:n.42-141_42-140delinsAT
XM_011515754.1:c.-994_-993delinsAT	XP_011514056.1:n.-994_-993delinsAT