Canonical Allele Identifier: CA1737392133

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590174_117590178delinsTAGTA , CM000669.2:g.117590174_117590178delinsTAGTA	GRCh38
NC_000007.13:g.117230228_117230232delinsTAGTA , CM000669.1:g.117230228_117230232delinsTAGTA	GRCh37
NC_000007.12:g.117017464_117017468delinsTAGTA	NCBI36
NG_016465.4:g.129391_129395delinsTAGTA , LRG_663:g.129391_129395delinsTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1680-179_1680-175delinsTAGTA	ENSP00000497673.2:n.1680-179_1680-175delinsTAGTA
ENST00000647978.2:c.*1394-179_*1394-175delinsTAGTA	ENSP00000497658.1:n.*1394-179_*1394-175delinsTAGTA
ENST00000649781.2:c.1497-179_1497-175delinsTAGTA	ENSP00000497203.1:n.1497-179_1497-175delinsTAGTA
ENST00000685018.2:c.1680-179_1680-175delinsTAGTA	ENSP00000510194.2:n.1680-179_1680-175delinsTAGTA
ENST00000687278.2:c.1680-179_1680-175delinsTAGTA	ENSP00000509593.2:n.1680-179_1680-175delinsTAGTA
ENST00000699585.1:c.1680-179_1680-175delinsTAGTA	ENSP00000514456.1:n.1680-179_1680-175delinsTAGTA
ENST00000699598.1:c.1680-179_1680-175delinsTAGTA	ENSP00000514467.1:n.1680-179_1680-175delinsTAGTA
ENST00000699599.1:c.1680-179_1680-175delinsTAGTA	ENSP00000514468.1:n.1680-179_1680-175delinsTAGTA
ENST00000699600.1:c.1680-179_1680-175delinsTAGTA	ENSP00000514469.1:n.1680-179_1680-175delinsTAGTA
ENST00000699601.1:c.1680-184_1680-180delinsTAGTA	ENSP00000514470.1:n.1680-184_1680-180delinsTAGTA
ENST00000699602.1:c.1680-179_1680-175delinsTAGTA	ENSP00000514471.1:n.1680-179_1680-175delinsTAGTA
ENST00000699604.1:c.*1504-179_*1504-175delinsTAGTA	ENSP00000514472.1:n.*1504-179_*1504-175delinsTAGTA
ENST00000699605.1:c.1254-179_1254-175delinsTAGTA	ENSP00000514473.1:n.1254-179_1254-175delinsTAGTA
ENST00000003084.11:c.1680-179_1680-175delinsTAGTA MANE Select	ENSP00000003084.6:n.1680-179_1680-175delinsTAGTA
ENST00000647978.1:c.*1394-179_*1394-175delinsTAGTA	ENSP00000497658.1:n.*1394-179_*1394-175delinsTAGTA
ENST00000648260.1:c.1402-12652_1402-12648delinsTAGTA	ENSP00000497957.1:n.1402-12652_1402-12648delinsTAGTA
ENST00000649406.1:c.1497-179_1497-175delinsTAGTA	ENSP00000497965.1:n.1497-179_1497-175delinsTAGTA
ENST00000649781.1:c.1497-179_1497-175delinsTAGTA	ENSP00000497203.1:n.1497-179_1497-175delinsTAGTA
ENST00000003084.10:c.1680-179_1680-175delinsTAGTA	ENSP00000003084.6:n.1680-179_1680-175delinsTAGTA
ENST00000426809.5:c.1590-179_1590-175delinsTAGTA	ENSP00000389119.1:n.1590-179_1590-175delinsTAGTA
NM_000492.3:c.1680-179_1680-175delinsTAGTA , LRG_663t1:c.1680-179_1680-175delinsTAGTA	NP_000483.3:n.1680-179_1680-175delinsTAGTA
XM_011515751.1:c.1770-179_1770-175delinsTAGTA	XP_011514053.1:n.1770-179_1770-175delinsTAGTA
XM_011515752.1:c.1770-179_1770-175delinsTAGTA	XP_011514054.1:n.1770-179_1770-175delinsTAGTA
XM_011515753.1:c.1437-179_1437-175delinsTAGTA	XP_011514055.1:n.1437-179_1437-175delinsTAGTA
XM_011515754.1:c.1437-179_1437-175delinsTAGTA	XP_011514056.1:n.1437-179_1437-175delinsTAGTA
NM_000492.4:c.1680-179_1680-175delinsTAGTA MANE Select	NP_000483.3:n.1680-179_1680-175delinsTAGTA