Canonical Allele Identifier: CA2684616953

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479948-GGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479956_117479959del , CM000669.2:g.117479956_117479959del	GRCh38
NC_000007.13:g.117120010_117120013del , CM000669.1:g.117120010_117120013del	GRCh37
NC_000007.12:g.116907246_116907249del	NCBI36
NG_016465.4:g.19173_19176del , LRG_663:g.19173_19176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+262_-191+265del	ENSP00000417012.1:n.-191+262_-191+265del
ENST00000673785.1:c.-406+14125_-406+14128del	ENSP00000501235.1:n.-406+14125_-406+14128del
ENST00000446805.1:c.-191+262_-191+265del	ENSP00000417012.1:n.-191+262_-191+265del
ENST00000546407.1:n.166+4148_166+4151del
XM_011515751.1:c.143+611_143+614del	XP_011514053.1:n.143+611_143+614del
XM_011515752.1:c.143+611_143+614del	XP_011514054.1:n.143+611_143+614del
XM_011515753.1:c.-191+262_-191+265del	XP_011514055.1:n.-191+262_-191+265del
XM_011515754.1:c.-518-192_-518-189del	XP_011514056.1:n.-518-192_-518-189del