Canonical Allele Identifier: CA2684616668

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479717-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479725_117479726del , CM000669.2:g.117479725_117479726del	GRCh38
NC_000007.13:g.117119779_117119780del , CM000669.1:g.117119779_117119780del	GRCh37
NC_000007.12:g.116907015_116907016del	NCBI36
NG_016465.4:g.18942_18943del , LRG_663:g.18942_18943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+31_-191+32del	ENSP00000417012.1:n.-191+31_-191+32del
ENST00000673785.1:c.-406+13894_-406+13895del	ENSP00000501235.1:n.-406+13894_-406+13895del
ENST00000446805.1:c.-191+31_-191+32del	ENSP00000417012.1:n.-191+31_-191+32del
ENST00000546407.1:n.166+3917_166+3918del
XM_011515751.1:c.143+380_143+381del	XP_011514053.1:n.143+380_143+381del
XM_011515752.1:c.143+380_143+381del	XP_011514054.1:n.143+380_143+381del
XM_011515753.1:c.-191+31_-191+32del	XP_011514055.1:n.-191+31_-191+32del
XM_011515754.1:c.-519+31_-519+32del	XP_011514056.1:n.-519+31_-519+32del