Canonical Allele Identifier: CA1737384677

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610526_117610527delinsTA , CM000669.2:g.117610526_117610527delinsTA	GRCh38
NC_000007.13:g.117250580_117250581delinsTA , CM000669.1:g.117250580_117250581delinsTA	GRCh37
NC_000007.12:g.117037816_117037817delinsTA	NCBI36
NG_016465.4:g.149743_149744delinsTA , LRG_663:g.149743_149744delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2996_2997delinsTA	ENSP00000497673.2:p.Leu999=
ENST00000647978.2:c.*2710_*2711delinsTA	ENSP00000497658.1:n.*2710_*2711delinsTA
ENST00000649781.2:c.2813_2814delinsTA	ENSP00000497203.1:p.Leu938=
ENST00000685018.2:c.2996_2997delinsTA	ENSP00000510194.2:p.Leu999=
ENST00000687278.2:c.2996_2997delinsTA	ENSP00000509593.2:p.Leu999=
ENST00000699585.1:c.2996_2997delinsTA	ENSP00000514456.1:p.Leu999=
ENST00000699598.1:c.2996_2997delinsTA	ENSP00000514467.1:p.Leu999=
ENST00000699599.1:c.2996_2997delinsTA	ENSP00000514468.1:p.Leu999=
ENST00000699600.1:c.2996_2997delinsTA	ENSP00000514469.1:p.Leu999=
ENST00000699601.1:c.*1296_*1297delinsTA	ENSP00000514470.1:n.*1296_*1297delinsTA
ENST00000699602.1:c.2996_2997delinsTA	ENSP00000514471.1:p.Leu999=
ENST00000699604.1:c.*2820_*2821delinsTA	ENSP00000514472.1:n.*2820_*2821delinsTA
ENST00000699605.1:c.2570_2571delinsTA	ENSP00000514473.1:p.Leu857=
ENST00000687278.1:c.587_588delinsTA	ENSP00000509593.1:p.Leu196=
ENST00000003084.11:c.2996_2997delinsTA MANE Select	ENSP00000003084.6:p.Leu999=
ENST00000647720.1:c.646_647delinsTA
ENST00000648260.1:c.1778_1779delinsTA	ENSP00000497957.1:p.Leu593=
ENST00000649406.1:c.2813_2814delinsTA	ENSP00000497965.1:p.Leu938=
ENST00000649781.1:c.2813_2814delinsTA	ENSP00000497203.1:p.Leu938=
ENST00000003084.10:c.2996_2997delinsTA	ENSP00000003084.6:p.Leu999=
ENST00000426809.5:c.2906_2907delinsTA	ENSP00000389119.1:p.Leu969=
NM_000492.3:c.2996_2997delinsTA , LRG_663t1:c.2996_2997delinsTA	NP_000483.3:p.Leu999=
XM_011515751.1:c.3086_3087delinsTA	XP_011514053.1:p.Leu1029=
XM_011515752.1:c.3086_3087delinsTA	XP_011514054.1:p.Leu1029=
XM_011515753.1:c.2753_2754delinsTA	XP_011514055.1:p.Leu918=
XM_011515754.1:c.2753_2754delinsTA	XP_011514056.1:p.Leu918=
NM_000492.4:c.2996_2997delinsTA MANE Select	NP_000483.3:p.Leu999=