Canonical Allele Identifier: CA2684616773

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479789-AGGAGAGGAGGAAGGAGCGGGAGGGGTGCTGGCGGGGGTGCGTAGTGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479795_117479843del , CM000669.2:g.117479795_117479843del	GRCh38
NC_000007.13:g.117119849_117119897del , CM000669.1:g.117119849_117119897del	GRCh37
NC_000007.12:g.116907085_116907133del	NCBI36
NG_016465.4:g.19012_19060del , LRG_663:g.19012_19060del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+101_-191+149del	ENSP00000417012.1:n.-191+101_-191+149del
ENST00000673785.1:c.-406+13964_-406+14012del	ENSP00000501235.1:n.-406+13964_-406+14012...
ENST00000446805.1:c.-191+101_-191+149del	ENSP00000417012.1:n.-191+101_-191+149del
ENST00000546407.1:n.166+3987_166+4035del
XM_011515751.1:c.143+450_143+498del	XP_011514053.1:n.143+450_143+498del
XM_011515752.1:c.143+450_143+498del	XP_011514054.1:n.143+450_143+498del
XM_011515753.1:c.-191+101_-191+149del	XP_011514055.1:n.-191+101_-191+149del
XM_011515754.1:c.-519+101_-519+149del	XP_011514056.1:n.-519+101_-519+149del