Canonical Allele Identifier: CA2684616695

Gene: CFTR

Linked Data

• gnomAD v4: 7-117479733-GGAGGCTGGGAGTCAGAATCGGGAAAGGGAGGTGCGGGGCGGCGAGGGAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479736_117479785del , CM000669.2:g.117479736_117479785del	GRCh38
NC_000007.13:g.117119790_117119839del , CM000669.1:g.117119790_117119839del	GRCh37
NC_000007.12:g.116907026_116907075del	NCBI36
NG_016465.4:g.18953_19002del , LRG_663:g.18953_19002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+42_-191+91del	ENSP00000417012.1:n.-191+42_-191+91del
ENST00000673785.1:c.-406+13905_-406+13954del	ENSP00000501235.1:n.-406+13905_-406+13954...
ENST00000446805.1:c.-191+42_-191+91del	ENSP00000417012.1:n.-191+42_-191+91del
ENST00000546407.1:n.166+3928_166+3977del
XM_011515751.1:c.143+391_143+440del	XP_011514053.1:n.143+391_143+440del
XM_011515752.1:c.143+391_143+440del	XP_011514054.1:n.143+391_143+440del
XM_011515753.1:c.-191+42_-191+91del	XP_011514055.1:n.-191+42_-191+91del
XM_011515754.1:c.-519+42_-519+91del	XP_011514056.1:n.-519+42_-519+91del