Canonical Allele Identifier: CA1737343779

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479299_117479303delinsCTAAT , CM000669.2:g.117479299_117479303delinsCTAAT	GRCh38
NC_000007.13:g.117119353_117119357delinsCTAAT , CM000669.1:g.117119353_117119357delinsCTAAT	GRCh37
NC_000007.12:g.116906589_116906593delinsCTAAT	NCBI36
NG_016465.4:g.18516_18520delinsCTAAT , LRG_663:g.18516_18520delinsCTAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-470_-466delinsCTAAT	ENSP00000417012.1:n.-470_-466delinsCTAAT
ENST00000673785.1:c.-406+13468_-406+13472delinsCTAAT	ENSP00000501235.1:n.-406+13468_-406+13472delinsCTAAT
ENST00000546407.1:n.166+3491_166+3495delinsCTAAT
XM_011515751.1:c.97_101delinsCTAAT	XP_011514053.1:p.Leu33=
XM_011515752.1:c.97_101delinsCTAAT	XP_011514054.1:p.Leu33=
XM_011515754.1:c.-798_-794delinsCTAAT	XP_011514056.1:n.-798_-794delinsCTAAT