Canonical Allele Identifier: CA1737384418

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610386_117610391delinsTAAAAA , CM000669.2:g.117610386_117610391delinsTAAAAA	GRCh38
NC_000007.13:g.117250440_117250445delinsTAAAAA , CM000669.1:g.117250440_117250445delinsTAAAAA	GRCh37
NC_000007.12:g.117037676_117037681delinsTAAAAA	NCBI36
NG_016465.4:g.149603_149608delinsTAAAAA , LRG_663:g.149603_149608delinsTAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-133_2989-128delinsTAAAAA	ENSP00000497673.2:n.2989-133_2989-128delinsTAAAAA
ENST00000647978.2:c.*2703-133_*2703-128delinsTAAAAA	ENSP00000497658.1:n.*2703-133_*2703-128delinsTAAAAA
ENST00000649781.2:c.2806-133_2806-128delinsTAAAAA	ENSP00000497203.1:n.2806-133_2806-128delinsTAAAAA
ENST00000685018.2:c.2989-133_2989-128delinsTAAAAA	ENSP00000510194.2:n.2989-133_2989-128delinsTAAAAA
ENST00000687278.2:c.2989-133_2989-128delinsTAAAAA	ENSP00000509593.2:n.2989-133_2989-128delinsTAAAAA
ENST00000699585.1:c.2989-133_2989-128delinsTAAAAA	ENSP00000514456.1:n.2989-133_2989-128delinsTAAAAA
ENST00000699598.1:c.2989-133_2989-128delinsTAAAAA	ENSP00000514467.1:n.2989-133_2989-128delinsTAAAAA
ENST00000699599.1:c.2989-133_2989-128delinsTAAAAA	ENSP00000514468.1:n.2989-133_2989-128delinsTAAAAA
ENST00000699600.1:c.2989-133_2989-128delinsTAAAAA	ENSP00000514469.1:n.2989-133_2989-128delinsTAAAAA
ENST00000699601.1:c.*1289-133_*1289-128delinsTAAAAA	ENSP00000514470.1:n.*1289-133_*1289-128delinsTAAAAA
ENST00000699602.1:c.2989-133_2989-128delinsTAAAAA	ENSP00000514471.1:n.2989-133_2989-128delinsTAAAAA
ENST00000699604.1:c.*2813-133_*2813-128delinsTAAAAA	ENSP00000514472.1:n.*2813-133_*2813-128delinsTAAAAA
ENST00000699605.1:c.2563-133_2563-128delinsTAAAAA	ENSP00000514473.1:n.2563-133_2563-128delinsTAAAAA
ENST00000687278.1:c.580-133_580-128delinsTAAAAA	ENSP00000509593.1:n.580-133_580-128delinsTAAAAA
ENST00000003084.11:c.2989-133_2989-128delinsTAAAAA MANE Select	ENSP00000003084.6:n.2989-133_2989-128delinsTAAAAA
ENST00000647720.1:c.639-133_639-128delinsTAAAAA
ENST00000648260.1:c.1771-133_1771-128delinsTAAAAA	ENSP00000497957.1:n.1771-133_1771-128delinsTAAAAA
ENST00000649406.1:c.2806-133_2806-128delinsTAAAAA	ENSP00000497965.1:n.2806-133_2806-128delinsTAAAAA
ENST00000649781.1:c.2806-133_2806-128delinsTAAAAA	ENSP00000497203.1:n.2806-133_2806-128delinsTAAAAA
ENST00000003084.10:c.2989-133_2989-128delinsTAAAAA	ENSP00000003084.6:n.2989-133_2989-128delinsTAAAAA
ENST00000426809.5:c.2899-133_2899-128delinsTAAAAA	ENSP00000389119.1:n.2899-133_2899-128delinsTAAAAA
NM_000492.3:c.2989-133_2989-128delinsTAAAAA , LRG_663t1:c.2989-133_2989-128delinsTAAAAA	NP_000483.3:n.2989-133_2989-128delinsTAAAAA
XM_011515751.1:c.3079-133_3079-128delinsTAAAAA	XP_011514053.1:n.3079-133_3079-128delinsTAAAAA
XM_011515752.1:c.3079-133_3079-128delinsTAAAAA	XP_011514054.1:n.3079-133_3079-128delinsTAAAAA
XM_011515753.1:c.2746-133_2746-128delinsTAAAAA	XP_011514055.1:n.2746-133_2746-128delinsTAAAAA
XM_011515754.1:c.2746-133_2746-128delinsTAAAAA	XP_011514056.1:n.2746-133_2746-128delinsTAAAAA
NM_000492.4:c.2989-133_2989-128delinsTAAAAA MANE Select	NP_000483.3:n.2989-133_2989-128delinsTAAAAA