Canonical Allele Identifier: CA2684616767

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479786-AGGAGGAGAGGAGGAAGGAGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479792_117479812del , CM000669.2:g.117479792_117479812del	GRCh38
NC_000007.13:g.117119846_117119866del , CM000669.1:g.117119846_117119866del	GRCh37
NC_000007.12:g.116907082_116907102del	NCBI36
NG_016465.4:g.19009_19029del , LRG_663:g.19009_19029del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+98_-191+118del	ENSP00000417012.1:n.-191+98_-191+118del
ENST00000673785.1:c.-406+13961_-406+13981del	ENSP00000501235.1:n.-406+13961_-406+13981del
ENST00000446805.1:c.-191+98_-191+118del	ENSP00000417012.1:n.-191+98_-191+118del
ENST00000546407.1:n.166+3984_166+4004del
XM_011515751.1:c.143+447_143+467del	XP_011514053.1:n.143+447_143+467del
XM_011515752.1:c.143+447_143+467del	XP_011514054.1:n.143+447_143+467del
XM_011515753.1:c.-191+98_-191+118del	XP_011514055.1:n.-191+98_-191+118del
XM_011515754.1:c.-519+98_-519+118del	XP_011514056.1:n.-519+98_-519+118del