Canonical Allele Identifier: CA1106300432

Gene: CFTR

Linked Data

• gnomAD v3: 7-117479956-T-TGGGGGGGGGGGGGGG
• gnomAD v4: 7-117479956-T-TGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479962_117479963insGGGGGGGGGGGGGGG , CM000669.2:g.117479962_117479963insGGGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.117120016_117120017insGGGGGGGGGGGGGGG , CM000669.1:g.117120016_117120017insGGGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.116907252_116907253insGGGGGGGGGGGGGGG	NCBI36
NG_016465.4:g.19179_19180insGGGGGGGGGGGGGGG , LRG_663:g.19179_19180insGGGGGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+268_-191+269insGGGGGGGGGGGGGGG	ENSP00000417012.1:n.-191+268_-191+269insGGGGGGGGGGGGGGG
ENST00000673785.1:c.-406+14131_-406+14132insGGGGGGGGGGGGGGG	ENSP00000501235.1:n.-406+14131_-406+14132insGGGGGGGGGGGGGGG
ENST00000446805.1:c.-191+268_-191+269insGGGGGGGGGGGGGGG	ENSP00000417012.1:n.-191+268_-191+269insGGGGGGGGGGGGGGG
ENST00000546407.1:n.166+4154_166+4155insGGGGGGGGGGGGGGG
XM_011515751.1:c.143+617_143+618insGGGGGGGGGGGGGGG	XP_011514053.1:n.143+617_143+618insGGGGGGGGGGGGGGG
XM_011515752.1:c.143+617_143+618insGGGGGGGGGGGGGGG	XP_011514054.1:n.143+617_143+618insGGGGGGGGGGGGGGG
XM_011515753.1:c.-191+268_-191+269insGGGGGGGGGGGGGGG	XP_011514055.1:n.-191+268_-191+269insGGGGGGGGGGGGGGG
XM_011515754.1:c.-518-186_-518-185insGGGGGGGGGGGGGGG	XP_011514056.1:n.-518-186_-518-185insGGGGGGGGGGGGGGG