Canonical Allele Identifier: CA2520184526

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595018_117595019insGG , CM000669.2:g.117595018_117595019insGG	GRCh38
NC_000007.13:g.117235072_117235073insGG , CM000669.1:g.117235072_117235073insGG	GRCh37
NC_000007.12:g.117022308_117022309insGG	NCBI36
NG_016465.4:g.134235_134236insGG , LRG_663:g.134235_134236insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2579_2580insGG	ENSP00000497673.2:p.Ile860MetfsTer5
ENST00000647978.2:c.*2293_*2294insGG	ENSP00000497658.1:n.*2293_*2294insGG
ENST00000649781.2:c.2396_2397insGG	ENSP00000497203.1:p.Ile799MetfsTer5
ENST00000685018.2:c.2579_2580insGG	ENSP00000510194.2:p.Ile860MetfsTer5
ENST00000687278.2:c.2579_2580insGG	ENSP00000509593.2:p.Ile860MetfsTer5
ENST00000699585.1:c.2579_2580insGG	ENSP00000514456.1:p.Ile860MetfsTer5
ENST00000699598.1:c.2579_2580insGG	ENSP00000514467.1:p.Ile860MetfsTer5
ENST00000699599.1:c.2579_2580insGG	ENSP00000514468.1:p.Ile860MetfsTer5
ENST00000699600.1:c.2579_2580insGG	ENSP00000514469.1:p.Ile860MetfsTer5
ENST00000699601.1:c.*879_*880insGG	ENSP00000514470.1:n.*879_*880insGG
ENST00000699602.1:c.2579_2580insGG	ENSP00000514471.1:p.Ile860MetfsTer5
ENST00000699604.1:c.*2403_*2404insGG	ENSP00000514472.1:n.*2403_*2404insGG
ENST00000699605.1:c.2153_2154insGG	ENSP00000514473.1:p.Ile718MetfsTer5
ENST00000687278.1:c.170_171insGG	ENSP00000509593.1:p.Ile57MetfsTer5
ENST00000003084.11:c.2579_2580insGG MANE Select	ENSP00000003084.6:p.Ile860MetfsTer5
ENST00000647720.1:c.229_230insGG
ENST00000648260.1:c.1402-7808_1402-7807insGG	ENSP00000497957.1:n.1402-7808_1402-7807in...
ENST00000649406.1:c.2396_2397insGG	ENSP00000497965.1:p.Ile799MetfsTer5
ENST00000649781.1:c.2396_2397insGG	ENSP00000497203.1:p.Ile799MetfsTer5
ENST00000003084.10:c.2579_2580insGG	ENSP00000003084.6:p.Ile860MetfsTer5
ENST00000426809.5:c.2489_2490insGG	ENSP00000389119.1:p.Ile830MetfsTer5
NM_000492.3:c.2579_2580insGG , LRG_663t1:c.2579_2580insGG	NP_000483.3:p.Ile860MetfsTer5
XM_011515751.1:c.2669_2670insGG	XP_011514053.1:p.Ile890MetfsTer5
XM_011515752.1:c.2669_2670insGG	XP_011514054.1:p.Ile890MetfsTer5
XM_011515753.1:c.2336_2337insGG	XP_011514055.1:p.Ile779MetfsTer5
XM_011515754.1:c.2336_2337insGG	XP_011514056.1:p.Ile779MetfsTer5
NM_000492.4:c.2579_2580insGG MANE Select	NP_000483.3:p.Ile860MetfsTer5