Canonical Allele Identifier: CA1737385274

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610668_117610669delinsAG , CM000669.2:g.117610668_117610669delinsAG	GRCh38
NC_000007.13:g.117250722_117250723delinsAG , CM000669.1:g.117250722_117250723delinsAG	GRCh37
NC_000007.12:g.117037958_117037959delinsAG	NCBI36
NG_016465.4:g.149885_149886delinsAG , LRG_663:g.149885_149886delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3138_3139delinsAG	ENSP00000497673.2:p.Glu1046=
ENST00000647978.2:c.*2852_*2853delinsAG	ENSP00000497658.1:n.*2852_*2853delinsAG
ENST00000649781.2:c.2955_2956delinsAG	ENSP00000497203.1:p.Glu985=
ENST00000685018.2:c.3138_3139delinsAG	ENSP00000510194.2:p.Glu1046=
ENST00000687278.2:c.3138_3139delinsAG	ENSP00000509593.2:p.Glu1046=
ENST00000699585.1:c.3138_3139delinsAG	ENSP00000514456.1:p.Glu1046=
ENST00000699598.1:c.3138_3139delinsAG	ENSP00000514467.1:p.Glu1046=
ENST00000699599.1:c.3138_3139delinsAG	ENSP00000514468.1:p.Glu1046=
ENST00000699600.1:c.3138_3139delinsAG	ENSP00000514469.1:p.Glu1046=
ENST00000699601.1:c.*1438_*1439delinsAG	ENSP00000514470.1:n.*1438_*1439delinsAG
ENST00000699602.1:c.3138_3139delinsAG	ENSP00000514471.1:p.Glu1046=
ENST00000699604.1:c.*2962_*2963delinsAG	ENSP00000514472.1:n.*2962_*2963delinsAG
ENST00000699605.1:c.2712_2713delinsAG	ENSP00000514473.1:p.Glu904=
ENST00000687278.1:c.729_730delinsAG	ENSP00000509593.1:p.Glu243=
ENST00000003084.11:c.3138_3139delinsAG MANE Select	ENSP00000003084.6:p.Glu1046=
ENST00000647720.1:c.788_789delinsAG
ENST00000648260.1:c.1920_1921delinsAG	ENSP00000497957.1:p.Glu640=
ENST00000649406.1:c.2955_2956delinsAG	ENSP00000497965.1:p.Glu985=
ENST00000649781.1:c.2955_2956delinsAG	ENSP00000497203.1:p.Glu985=
ENST00000003084.10:c.3138_3139delinsAG	ENSP00000003084.6:p.Glu1046=
ENST00000426809.5:c.3048_3049delinsAG	ENSP00000389119.1:p.Glu1016=
NM_000492.3:c.3138_3139delinsAG , LRG_663t1:c.3138_3139delinsAG	NP_000483.3:p.Glu1046=
XM_011515751.1:c.3228_3229delinsAG	XP_011514053.1:p.Glu1076=
XM_011515752.1:c.3228_3229delinsAG	XP_011514054.1:p.Glu1076=
XM_011515753.1:c.2895_2896delinsAG	XP_011514055.1:p.Glu965=
XM_011515754.1:c.2895_2896delinsAG	XP_011514056.1:p.Glu965=
NM_000492.4:c.3138_3139delinsAG MANE Select	NP_000483.3:p.Glu1046=