Canonical Allele Identifier: CA2695208422

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603690_117603691delinsC , CM000669.2:g.117603690_117603691delinsC	GRCh38
NC_000007.13:g.117243744_117243745delinsC , CM000669.1:g.117243744_117243745delinsC	GRCh37
NC_000007.12:g.117030980_117030981delinsC	NCBI36
NG_016465.4:g.142907_142908delinsC , LRG_663:g.142907_142908delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2816_2817delinsC	ENSP00000497673.2:p.His939ProfsTer3
ENST00000647978.2:c.*2530_*2531delinsC	ENSP00000497658.1:n.*2530_*2531delinsC
ENST00000649781.2:c.2633_2634delinsC	ENSP00000497203.1:p.His878ProfsTer3
ENST00000685018.2:c.2816_2817delinsC	ENSP00000510194.2:p.His939ProfsTer3
ENST00000687278.2:c.2816_2817delinsC	ENSP00000509593.2:p.His939ProfsTer3
ENST00000699585.1:c.2816_2817delinsC	ENSP00000514456.1:p.His939ProfsTer3
ENST00000699598.1:c.2816_2817delinsC	ENSP00000514467.1:p.His939ProfsTer3
ENST00000699599.1:c.2816_2817delinsC	ENSP00000514468.1:p.His939ProfsTer3
ENST00000699600.1:c.2816_2817delinsC	ENSP00000514469.1:p.His939ProfsTer3
ENST00000699601.1:c.*1116_*1117delinsC	ENSP00000514470.1:n.*1116_*1117delinsC
ENST00000699602.1:c.2816_2817delinsC	ENSP00000514471.1:p.His939ProfsTer3
ENST00000699604.1:c.*2640_*2641delinsC	ENSP00000514472.1:n.*2640_*2641delinsC
ENST00000699605.1:c.2390_2391delinsC	ENSP00000514473.1:p.His797ProfsTer3
ENST00000687278.1:c.407_408delinsC	ENSP00000509593.1:p.His136ProfsTer3
ENST00000003084.11:c.2816_2817delinsC MANE Select	ENSP00000003084.6:p.His939ProfsTer3
ENST00000647720.1:c.466_467delinsC
ENST00000648260.1:c.1598_1599delinsC	ENSP00000497957.1:p.His533ProfsTer3
ENST00000649406.1:c.2633_2634delinsC	ENSP00000497965.1:p.His878ProfsTer3
ENST00000649781.1:c.2633_2634delinsC	ENSP00000497203.1:p.His878ProfsTer3
ENST00000003084.10:c.2816_2817delinsC	ENSP00000003084.6:p.His939ProfsTer3
ENST00000426809.5:c.2726_2727delinsC	ENSP00000389119.1:p.His909ProfsTer3
NM_000492.3:c.2816_2817delinsC , LRG_663t1:c.2816_2817delinsC	NP_000483.3:p.His939ProfsTer3
XM_011515751.1:c.2906_2907delinsC	XP_011514053.1:p.His969ProfsTer3
XM_011515752.1:c.2906_2907delinsC	XP_011514054.1:p.His969ProfsTer3
XM_011515753.1:c.2573_2574delinsC	XP_011514055.1:p.His858ProfsTer3
XM_011515754.1:c.2573_2574delinsC	XP_011514056.1:p.His858ProfsTer3
NM_000492.4:c.2816_2817delinsC MANE Select	NP_000483.3:p.His939ProfsTer3