Canonical Allele Identifier: CA2684649156

Gene: CFTR

Linked Data

• gnomAD v4: 7-117664693-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664695_117664696del , CM000669.2:g.117664695_117664696del	GRCh38
NC_000007.13:g.117304749_117304750del , CM000669.1:g.117304749_117304750del	GRCh37
NC_000007.12:g.117091985_117091986del	NCBI36
NG_016465.4:g.203912_203913del , LRG_663:g.203912_203913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*180_*181del	ENSP00000497673.2:n.*180_*181del
ENST00000647978.2:c.*3685_*3686del	ENSP00000497658.1:n.*3685_*3686del
ENST00000649781.2:c.3788_3789del	ENSP00000497203.1:p.Leu1263GlnfsTer12
ENST00000685018.2:c.*184_*185del	ENSP00000510194.2:n.*184_*185del
ENST00000687278.2:c.*624_*625del	ENSP00000509593.2:n.*624_*625del
ENST00000699585.1:c.*180_*181del	ENSP00000514456.1:n.*180_*181del
ENST00000699598.1:c.3971_3972del	ENSP00000514467.1:p.Leu1324GlnfsTer12
ENST00000699599.1:c.*184_*185del	ENSP00000514468.1:n.*184_*185del
ENST00000699600.1:c.*632_*633del	ENSP00000514469.1:n.*632_*633del
ENST00000699601.1:c.*2346_*2347del	ENSP00000514470.1:n.*2346_*2347del
ENST00000699602.1:c.3965_3966del	ENSP00000514471.1:p.Leu1322GlnfsTer12
ENST00000699604.1:c.*3795_*3796del	ENSP00000514472.1:n.*3795_*3796del
ENST00000699605.1:c.3545_3546del	ENSP00000514473.1:p.Leu1182GlnfsTer12
ENST00000699606.1:n.2139_2140del
ENST00000685018.1:c.835_836del	ENSP00000510194.1:n.835_836del
ENST00000687278.1:c.1758_1759del	ENSP00000509593.1:n.1758_1759del
ENST00000689011.1:c.553_554del
ENST00000003084.11:c.3971_3972del MANE Select	ENSP00000003084.6:p.Leu1324GlnfsTer12
ENST00000647720.1:c.1421_1422del
ENST00000649781.1:c.3788_3789del	ENSP00000497203.1:p.Leu1263GlnfsTer12
ENST00000003084.10:c.3971_3972del	ENSP00000003084.6:p.Leu1324GlnfsTer12
ENST00000426809.5:c.3881_3882del	ENSP00000389119.1:p.Leu1294GlnfsTer12
ENST00000600166.1:c.97_98del
NM_000492.3:c.3971_3972del , LRG_663t1:c.3971_3972del	NP_000483.3:p.Leu1324GlnfsTer12
XM_011515751.1:c.4061_4062del	XP_011514053.1:p.Leu1354GlnfsTer12
XM_011515752.1:c.4061_4062del	XP_011514054.1:p.Leu1354GlnfsTer12
XM_011515753.1:c.3728_3729del	XP_011514055.1:p.Leu1243GlnfsTer12
XM_011515754.1:c.3728_3729del	XP_011514056.1:p.Leu1243GlnfsTer12
NM_000492.4:c.3971_3972del MANE Select	NP_000483.3:p.Leu1324GlnfsTer12