Canonical Allele Identifier: CA2777586099

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603727_117603728insCCCCCAAACACACCCAACAC , CM000669.2:g.117603727_117603728insCCCCCAAACACACCCAACAC	GRCh38
NC_000007.13:g.117243781_117243782insCCCCCAAACACACCCAACAC , CM000669.1:g.117243781_117243782insCCCCCAAACACACCCAACAC	GRCh37
NC_000007.12:g.117031017_117031018insCCCCCAAACACACCCAACAC	NCBI36
NG_016465.4:g.142944_142945insCCCCCAAACACACCCAACAC , LRG_663:g.142944_142945insCCCCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000497673.2:p.Met952ProfsTer23
ENST00000647978.2:c.*2567_*2568insCCCCCAAACACACCCAACAC	ENSP00000497658.1:n.*2567_*2568insCCCCCAAACACACCCAACAC
ENST00000649781.2:c.2670_2671insCCCCCAAACACACCCAACAC	ENSP00000497203.1:p.Met891ProfsTer23
ENST00000685018.2:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000510194.2:p.Met952ProfsTer23
ENST00000687278.2:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000509593.2:p.Met952ProfsTer23
ENST00000699585.1:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000514456.1:p.Met952ProfsTer23
ENST00000699598.1:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000514467.1:p.Met952ProfsTer23
ENST00000699599.1:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000514468.1:p.Met952ProfsTer23
ENST00000699600.1:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000514469.1:p.Met952ProfsTer23
ENST00000699601.1:c.*1153_*1154insCCCCCAAACACACCCAACAC	ENSP00000514470.1:n.*1153_*1154insCCCCCAAACACACCCAACAC
ENST00000699602.1:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000514471.1:p.Met952ProfsTer23
ENST00000699604.1:c.*2677_*2678insCCCCCAAACACACCCAACAC	ENSP00000514472.1:n.*2677_*2678insCCCCCAAACACACCCAACAC
ENST00000699605.1:c.2427_2428insCCCCCAAACACACCCAACAC	ENSP00000514473.1:p.Met810ProfsTer23
ENST00000687278.1:c.444_445insCCCCCAAACACACCCAACAC	ENSP00000509593.1:p.Met149ProfsTer23
ENST00000003084.11:c.2853_2854insCCCCCAAACACACCCAACAC MANE Select	ENSP00000003084.6:p.Met952ProfsTer23
ENST00000647720.1:c.503_504insCCCCCAAACACACCCAACAC
ENST00000648260.1:c.1635_1636insCCCCCAAACACACCCAACAC	ENSP00000497957.1:p.Met546ProfsTer23
ENST00000649406.1:c.2670_2671insCCCCCAAACACACCCAACAC	ENSP00000497965.1:p.Met891ProfsTer23
ENST00000649781.1:c.2670_2671insCCCCCAAACACACCCAACAC	ENSP00000497203.1:p.Met891ProfsTer23
ENST00000003084.10:c.2853_2854insCCCCCAAACACACCCAACAC	ENSP00000003084.6:p.Met952ProfsTer23
ENST00000426809.5:c.2763_2764insCCCCCAAACACACCCAACAC	ENSP00000389119.1:p.Met922ProfsTer23
NM_000492.3:c.2853_2854insCCCCCAAACACACCCAACAC , LRG_663t1:c.2853_2854insCCCCCAAACACACCCAACAC	NP_000483.3:p.Met952ProfsTer23
XM_011515751.1:c.2943_2944insCCCCCAAACACACCCAACAC	XP_011514053.1:p.Met982ProfsTer23
XM_011515752.1:c.2943_2944insCCCCCAAACACACCCAACAC	XP_011514054.1:p.Met982ProfsTer23
XM_011515753.1:c.2610_2611insCCCCCAAACACACCCAACAC	XP_011514055.1:p.Met871ProfsTer23
XM_011515754.1:c.2610_2611insCCCCCAAACACACCCAACAC	XP_011514056.1:p.Met871ProfsTer23
NM_000492.4:c.2853_2854insCCCCCAAACACACCCAACAC MANE Select	NP_000483.3:p.Met952ProfsTer23