Canonical Allele Identifier: CA2684616778

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479792-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479798_117479800del , CM000669.2:g.117479798_117479800del	GRCh38
NC_000007.13:g.117119852_117119854del , CM000669.1:g.117119852_117119854del	GRCh37
NC_000007.12:g.116907088_116907090del	NCBI36
NG_016465.4:g.19015_19017del , LRG_663:g.19015_19017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+104_-191+106del	ENSP00000417012.1:n.-191+104_-191+106del
ENST00000673785.1:c.-406+13967_-406+13969del	ENSP00000501235.1:n.-406+13967_-406+13969del
ENST00000446805.1:c.-191+104_-191+106del	ENSP00000417012.1:n.-191+104_-191+106del
ENST00000546407.1:n.166+3990_166+3992del
XM_011515751.1:c.143+453_143+455del	XP_011514053.1:n.143+453_143+455del
XM_011515752.1:c.143+453_143+455del	XP_011514054.1:n.143+453_143+455del
XM_011515753.1:c.-191+104_-191+106del	XP_011514055.1:n.-191+104_-191+106del
XM_011515754.1:c.-519+104_-519+106del	XP_011514056.1:n.-519+104_-519+106del