Canonical Allele Identifier: CA2715453575

Gene: CFTR

Linked Data

• dbSNP Id: rs2116223055

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665566_117665567insCATAGAA , CM000669.2:g.117665566_117665567insCATAGAA	GRCh38
NC_000007.13:g.117305620_117305621insCATAGAA , CM000669.1:g.117305620_117305621insCATAGAA	GRCh37
NC_000007.12:g.117092856_117092857insCATAGAA	NCBI36
NG_016465.4:g.204783_204784insCATAGAA , LRG_663:g.204783_204784insCATAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+2_*451+3insCATAGAA	ENSP00000497673.2:n.*451+2_*451+3insCATAGAA
ENST00000647978.2:c.*3956+2_*3956+3insCATAGAA	ENSP00000497658.1:n.*3956+2_*3956+3insCATAGAA
ENST00000649781.2:c.4059+2_4059+3insCATAGAA	ENSP00000497203.1:n.4059+2_4059+3insCATAGAA
ENST00000685018.2:c.*455+2_*455+3insCATAGAA	ENSP00000510194.2:n.*455+2_*455+3insCATAGAA
ENST00000687278.2:c.*895+2_*895+3insCATAGAA	ENSP00000509593.2:n.*895+2_*895+3insCATAGAA
ENST00000699585.1:c.*451+2_*451+3insCATAGAA	ENSP00000514456.1:n.*451+2_*451+3insCATAGAA
ENST00000699598.1:c.4242+2_4242+3insCATAGAA	ENSP00000514467.1:n.4242+2_4242+3insCATAGAA
ENST00000699599.1:c.*455+2_*455+3insCATAGAA	ENSP00000514468.1:n.*455+2_*455+3insCATAGAA
ENST00000699600.1:c.*903+2_*903+3insCATAGAA	ENSP00000514469.1:n.*903+2_*903+3insCATAGAA
ENST00000699601.1:c.*2617+2_*2617+3insCATAGAA	ENSP00000514470.1:n.*2617+2_*2617+3insCATAGAA
ENST00000699602.1:c.4236+2_4236+3insCATAGAA	ENSP00000514471.1:n.4236+2_4236+3insCATAGAA
ENST00000699604.1:c.*4066+2_*4066+3insCATAGAA	ENSP00000514472.1:n.*4066+2_*4066+3insCATAGAA
ENST00000699605.1:c.3816+2_3816+3insCATAGAA	ENSP00000514473.1:n.3816+2_3816+3insCATAGAA
ENST00000699606.1:n.2412_2413insCATAGAA
ENST00000685018.1:c.1106+2_1106+3insCATAGAA	ENSP00000510194.1:n.1106+2_1106+3insCATAGAA
ENST00000687278.1:c.2029+2_2029+3insCATAGAA	ENSP00000509593.1:n.2029+2_2029+3insCATAGAA
ENST00000689011.1:c.824+2_824+3insCATAGAA
ENST00000003084.11:c.4242+2_4242+3insCATAGAA MANE Select	ENSP00000003084.6:n.4242+2_4242+3insCATAGAA
ENST00000647720.1:c.1692+2_1692+3insCATAGAA
ENST00000649781.1:c.4059+2_4059+3insCATAGAA	ENSP00000497203.1:n.4059+2_4059+3insCATAGAA
ENST00000003084.10:c.4242+2_4242+3insCATAGAA	ENSP00000003084.6:n.4242+2_4242+3insCATAGAA
ENST00000426809.5:c.4152+2_4152+3insCATAGAA	ENSP00000389119.1:n.4152+2_4152+3insCATAGAA
ENST00000600166.1:c.368+2_368+3insCATAGAA
NM_000492.3:c.4242+2_4242+3insCATAGAA , LRG_663t1:c.4242+2_4242+3insCATAGAA	NP_000483.3:n.4242+2_4242+3insCATAGAA
XM_011515751.1:c.4332+2_4332+3insCATAGAA	XP_011514053.1:n.4332+2_4332+3insCATAGAA
XM_011515752.1:c.4332+2_4332+3insCATAGAA	XP_011514054.1:n.4332+2_4332+3insCATAGAA
XM_011515753.1:c.3999+2_3999+3insCATAGAA	XP_011514055.1:n.3999+2_3999+3insCATAGAA
XM_011515754.1:c.3999+2_3999+3insCATAGAA	XP_011514056.1:n.3999+2_3999+3insCATAGAA
NM_000492.4:c.4242+2_4242+3insCATAGAA MANE Select	NP_000483.3:n.4242+2_4242+3insCATAGAA