Canonical Allele Identifier: CA1737423151

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665647_117665648delinsTG , CM000669.2:g.117665647_117665648delinsTG	GRCh38
NC_000007.13:g.117305701_117305702delinsTG , CM000669.1:g.117305701_117305702delinsTG	GRCh37
NC_000007.12:g.117092937_117092938delinsTG	NCBI36
NG_016465.4:g.204864_204865delinsTG , LRG_663:g.204864_204865delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+83_*451+84delinsTG	ENSP00000497673.2:n.*451+83_*451+84delinsTG
ENST00000647978.2:c.*3956+83_*3956+84delinsTG	ENSP00000497658.1:n.*3956+83_*3956+84delinsTG
ENST00000649781.2:c.4059+83_4059+84delinsTG	ENSP00000497203.1:n.4059+83_4059+84delinsTG
ENST00000685018.2:c.*455+83_*455+84delinsTG	ENSP00000510194.2:n.*455+83_*455+84delinsTG
ENST00000687278.2:c.*895+83_*895+84delinsTG	ENSP00000509593.2:n.*895+83_*895+84delinsTG
ENST00000699585.1:c.*451+83_*451+84delinsTG	ENSP00000514456.1:n.*451+83_*451+84delinsTG
ENST00000699598.1:c.4242+83_4242+84delinsTG	ENSP00000514467.1:n.4242+83_4242+84delinsTG
ENST00000699599.1:c.*455+83_*455+84delinsTG	ENSP00000514468.1:n.*455+83_*455+84delinsTG
ENST00000699600.1:c.*903+83_*903+84delinsTG	ENSP00000514469.1:n.*903+83_*903+84delinsTG
ENST00000699601.1:c.*2617+83_*2617+84delinsTG	ENSP00000514470.1:n.*2617+83_*2617+84delinsTG
ENST00000699602.1:c.4236+83_4236+84delinsTG	ENSP00000514471.1:n.4236+83_4236+84delinsTG
ENST00000699604.1:c.*4066+83_*4066+84delinsTG	ENSP00000514472.1:n.*4066+83_*4066+84delinsTG
ENST00000699605.1:c.3816+83_3816+84delinsTG	ENSP00000514473.1:n.3816+83_3816+84delinsTG
ENST00000699606.1:n.2493_2494delinsTG
ENST00000685018.1:c.1106+83_1106+84delinsTG	ENSP00000510194.1:n.1106+83_1106+84delinsTG
ENST00000687278.1:c.2029+83_2029+84delinsTG	ENSP00000509593.1:n.2029+83_2029+84delinsTG
ENST00000689011.1:c.824+83_824+84delinsTG
ENST00000003084.11:c.4242+83_4242+84delinsTG MANE Select	ENSP00000003084.6:n.4242+83_4242+84delinsTG
ENST00000647720.1:c.1692+83_1692+84delinsTG
ENST00000649781.1:c.4059+83_4059+84delinsTG	ENSP00000497203.1:n.4059+83_4059+84delinsTG
ENST00000003084.10:c.4242+83_4242+84delinsTG	ENSP00000003084.6:n.4242+83_4242+84delinsTG
ENST00000426809.5:c.4152+83_4152+84delinsTG	ENSP00000389119.1:n.4152+83_4152+84delinsTG
ENST00000600166.1:c.368+83_368+84delinsTG
NM_000492.3:c.4242+83_4242+84delinsTG , LRG_663t1:c.4242+83_4242+84delinsTG	NP_000483.3:n.4242+83_4242+84delinsTG
XM_011515751.1:c.4332+83_4332+84delinsTG	XP_011514053.1:n.4332+83_4332+84delinsTG
XM_011515752.1:c.4332+83_4332+84delinsTG	XP_011514054.1:n.4332+83_4332+84delinsTG
XM_011515753.1:c.3999+83_3999+84delinsTG	XP_011514055.1:n.3999+83_3999+84delinsTG
XM_011515754.1:c.3999+83_3999+84delinsTG	XP_011514056.1:n.3999+83_3999+84delinsTG
NM_000492.4:c.4242+83_4242+84delinsTG MANE Select	NP_000483.3:n.4242+83_4242+84delinsTG