Canonical Allele Identifier: CA1737384085

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610077_117610078delinsTC , CM000669.2:g.117610077_117610078delinsTC	GRCh38
NC_000007.13:g.117250131_117250132delinsTC , CM000669.1:g.117250131_117250132delinsTC	GRCh37
NC_000007.12:g.117037367_117037368delinsTC	NCBI36
NG_016465.4:g.149294_149295delinsTC , LRG_663:g.149294_149295delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-442_2989-441delinsTC	ENSP00000497673.2:n.2989-442_2989-441delinsTC
ENST00000647978.2:c.*2703-442_*2703-441delinsTC	ENSP00000497658.1:n.*2703-442_*2703-441delinsTC
ENST00000649781.2:c.2806-442_2806-441delinsTC	ENSP00000497203.1:n.2806-442_2806-441delinsTC
ENST00000685018.2:c.2989-442_2989-441delinsTC	ENSP00000510194.2:n.2989-442_2989-441delinsTC
ENST00000687278.2:c.2989-442_2989-441delinsTC	ENSP00000509593.2:n.2989-442_2989-441delinsTC
ENST00000699585.1:c.2989-442_2989-441delinsTC	ENSP00000514456.1:n.2989-442_2989-441delinsTC
ENST00000699598.1:c.2989-442_2989-441delinsTC	ENSP00000514467.1:n.2989-442_2989-441delinsTC
ENST00000699599.1:c.2989-442_2989-441delinsTC	ENSP00000514468.1:n.2989-442_2989-441delinsTC
ENST00000699600.1:c.2989-442_2989-441delinsTC	ENSP00000514469.1:n.2989-442_2989-441delinsTC
ENST00000699601.1:c.*1289-442_*1289-441delinsTC	ENSP00000514470.1:n.*1289-442_*1289-441delinsTC
ENST00000699602.1:c.2989-442_2989-441delinsTC	ENSP00000514471.1:n.2989-442_2989-441delinsTC
ENST00000699604.1:c.*2813-442_*2813-441delinsTC	ENSP00000514472.1:n.*2813-442_*2813-441delinsTC
ENST00000699605.1:c.2563-442_2563-441delinsTC	ENSP00000514473.1:n.2563-442_2563-441delinsTC
ENST00000687278.1:c.580-442_580-441delinsTC	ENSP00000509593.1:n.580-442_580-441delinsTC
ENST00000003084.11:c.2989-442_2989-441delinsTC MANE Select	ENSP00000003084.6:n.2989-442_2989-441delinsTC
ENST00000647720.1:c.639-442_639-441delinsTC
ENST00000648260.1:c.1771-442_1771-441delinsTC	ENSP00000497957.1:n.1771-442_1771-441delinsTC
ENST00000649406.1:c.2806-442_2806-441delinsTC	ENSP00000497965.1:n.2806-442_2806-441delinsTC
ENST00000649781.1:c.2806-442_2806-441delinsTC	ENSP00000497203.1:n.2806-442_2806-441delinsTC
ENST00000003084.10:c.2989-442_2989-441delinsTC	ENSP00000003084.6:n.2989-442_2989-441delinsTC
ENST00000426809.5:c.2899-442_2899-441delinsTC	ENSP00000389119.1:n.2899-442_2899-441delinsTC
NM_000492.3:c.2989-442_2989-441delinsTC , LRG_663t1:c.2989-442_2989-441delinsTC	NP_000483.3:n.2989-442_2989-441delinsTC
XM_011515751.1:c.3079-442_3079-441delinsTC	XP_011514053.1:n.3079-442_3079-441delinsTC
XM_011515752.1:c.3079-442_3079-441delinsTC	XP_011514054.1:n.3079-442_3079-441delinsTC
XM_011515753.1:c.2746-442_2746-441delinsTC	XP_011514055.1:n.2746-442_2746-441delinsTC
XM_011515754.1:c.2746-442_2746-441delinsTC	XP_011514056.1:n.2746-442_2746-441delinsTC
NM_000492.4:c.2989-442_2989-441delinsTC MANE Select	NP_000483.3:n.2989-442_2989-441delinsTC