Canonical Allele Identifier: CA1737384032

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610000_117610004delinsTGATA , CM000669.2:g.117610000_117610004delinsTGATA	GRCh38
NC_000007.13:g.117250054_117250058delinsTGATA , CM000669.1:g.117250054_117250058delinsTGATA	GRCh37
NC_000007.12:g.117037290_117037294delinsTGATA	NCBI36
NG_016465.4:g.149217_149221delinsTGATA , LRG_663:g.149217_149221delinsTGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-519_2989-515delinsTGATA	ENSP00000497673.2:n.2989-519_2989-515delinsTGATA
ENST00000647978.2:c.*2703-519_*2703-515delinsTGATA	ENSP00000497658.1:n.*2703-519_*2703-515delinsTGATA
ENST00000649781.2:c.2806-519_2806-515delinsTGATA	ENSP00000497203.1:n.2806-519_2806-515delinsTGATA
ENST00000685018.2:c.2989-519_2989-515delinsTGATA	ENSP00000510194.2:n.2989-519_2989-515delinsTGATA
ENST00000687278.2:c.2989-519_2989-515delinsTGATA	ENSP00000509593.2:n.2989-519_2989-515delinsTGATA
ENST00000699585.1:c.2989-519_2989-515delinsTGATA	ENSP00000514456.1:n.2989-519_2989-515delinsTGATA
ENST00000699598.1:c.2989-519_2989-515delinsTGATA	ENSP00000514467.1:n.2989-519_2989-515delinsTGATA
ENST00000699599.1:c.2989-519_2989-515delinsTGATA	ENSP00000514468.1:n.2989-519_2989-515delinsTGATA
ENST00000699600.1:c.2989-519_2989-515delinsTGATA	ENSP00000514469.1:n.2989-519_2989-515delinsTGATA
ENST00000699601.1:c.*1289-519_*1289-515delinsTGATA	ENSP00000514470.1:n.*1289-519_*1289-515delinsTGATA
ENST00000699602.1:c.2989-519_2989-515delinsTGATA	ENSP00000514471.1:n.2989-519_2989-515delinsTGATA
ENST00000699604.1:c.*2813-519_*2813-515delinsTGATA	ENSP00000514472.1:n.*2813-519_*2813-515delinsTGATA
ENST00000699605.1:c.2563-519_2563-515delinsTGATA	ENSP00000514473.1:n.2563-519_2563-515delinsTGATA
ENST00000687278.1:c.580-519_580-515delinsTGATA	ENSP00000509593.1:n.580-519_580-515delinsTGATA
ENST00000003084.11:c.2989-519_2989-515delinsTGATA MANE Select	ENSP00000003084.6:n.2989-519_2989-515delinsTGATA
ENST00000647720.1:c.639-519_639-515delinsTGATA
ENST00000648260.1:c.1771-519_1771-515delinsTGATA	ENSP00000497957.1:n.1771-519_1771-515delinsTGATA
ENST00000649406.1:c.2806-519_2806-515delinsTGATA	ENSP00000497965.1:n.2806-519_2806-515delinsTGATA
ENST00000649781.1:c.2806-519_2806-515delinsTGATA	ENSP00000497203.1:n.2806-519_2806-515delinsTGATA
ENST00000003084.10:c.2989-519_2989-515delinsTGATA	ENSP00000003084.6:n.2989-519_2989-515delinsTGATA
ENST00000426809.5:c.2899-519_2899-515delinsTGATA	ENSP00000389119.1:n.2899-519_2899-515delinsTGATA
NM_000492.3:c.2989-519_2989-515delinsTGATA , LRG_663t1:c.2989-519_2989-515delinsTGATA	NP_000483.3:n.2989-519_2989-515delinsTGATA
XM_011515751.1:c.3079-519_3079-515delinsTGATA	XP_011514053.1:n.3079-519_3079-515delinsTGATA
XM_011515752.1:c.3079-519_3079-515delinsTGATA	XP_011514054.1:n.3079-519_3079-515delinsTGATA
XM_011515753.1:c.2746-519_2746-515delinsTGATA	XP_011514055.1:n.2746-519_2746-515delinsTGATA
XM_011515754.1:c.2746-519_2746-515delinsTGATA	XP_011514056.1:n.2746-519_2746-515delinsTGATA
NM_000492.4:c.2989-519_2989-515delinsTGATA MANE Select	NP_000483.3:n.2989-519_2989-515delinsTGATA