Canonical Allele Identifier: CA1737392140

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590183_117590185delinsCAT , CM000669.2:g.117590183_117590185delinsCAT	GRCh38
NC_000007.13:g.117230237_117230239delinsCAT , CM000669.1:g.117230237_117230239delinsCAT	GRCh37
NC_000007.12:g.117017473_117017475delinsCAT	NCBI36
NG_016465.4:g.129400_129402delinsCAT , LRG_663:g.129400_129402delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1680-170_1680-168delinsCAT	ENSP00000497673.2:n.1680-170_1680-168delinsCAT
ENST00000647978.2:c.*1394-170_*1394-168delinsCAT	ENSP00000497658.1:n.*1394-170_*1394-168delinsCAT
ENST00000649781.2:c.1497-170_1497-168delinsCAT	ENSP00000497203.1:n.1497-170_1497-168delinsCAT
ENST00000685018.2:c.1680-170_1680-168delinsCAT	ENSP00000510194.2:n.1680-170_1680-168delinsCAT
ENST00000687278.2:c.1680-170_1680-168delinsCAT	ENSP00000509593.2:n.1680-170_1680-168delinsCAT
ENST00000699585.1:c.1680-170_1680-168delinsCAT	ENSP00000514456.1:n.1680-170_1680-168delinsCAT
ENST00000699598.1:c.1680-170_1680-168delinsCAT	ENSP00000514467.1:n.1680-170_1680-168delinsCAT
ENST00000699599.1:c.1680-170_1680-168delinsCAT	ENSP00000514468.1:n.1680-170_1680-168delinsCAT
ENST00000699600.1:c.1680-170_1680-168delinsCAT	ENSP00000514469.1:n.1680-170_1680-168delinsCAT
ENST00000699601.1:c.1680-175_1680-173delinsCAT	ENSP00000514470.1:n.1680-175_1680-173delinsCAT
ENST00000699602.1:c.1680-170_1680-168delinsCAT	ENSP00000514471.1:n.1680-170_1680-168delinsCAT
ENST00000699604.1:c.*1504-170_*1504-168delinsCAT	ENSP00000514472.1:n.*1504-170_*1504-168delinsCAT
ENST00000699605.1:c.1254-170_1254-168delinsCAT	ENSP00000514473.1:n.1254-170_1254-168delinsCAT
ENST00000003084.11:c.1680-170_1680-168delinsCAT MANE Select	ENSP00000003084.6:n.1680-170_1680-168delinsCAT
ENST00000647978.1:c.*1394-170_*1394-168delinsCAT	ENSP00000497658.1:n.*1394-170_*1394-168delinsCAT
ENST00000648260.1:c.1402-12643_1402-12641delinsCAT	ENSP00000497957.1:n.1402-12643_1402-12641delinsCAT
ENST00000649406.1:c.1497-170_1497-168delinsCAT	ENSP00000497965.1:n.1497-170_1497-168delinsCAT
ENST00000649781.1:c.1497-170_1497-168delinsCAT	ENSP00000497203.1:n.1497-170_1497-168delinsCAT
ENST00000003084.10:c.1680-170_1680-168delinsCAT	ENSP00000003084.6:n.1680-170_1680-168delinsCAT
ENST00000426809.5:c.1590-170_1590-168delinsCAT	ENSP00000389119.1:n.1590-170_1590-168delinsCAT
NM_000492.3:c.1680-170_1680-168delinsCAT , LRG_663t1:c.1680-170_1680-168delinsCAT	NP_000483.3:n.1680-170_1680-168delinsCAT
XM_011515751.1:c.1770-170_1770-168delinsCAT	XP_011514053.1:n.1770-170_1770-168delinsCAT
XM_011515752.1:c.1770-170_1770-168delinsCAT	XP_011514054.1:n.1770-170_1770-168delinsCAT
XM_011515753.1:c.1437-170_1437-168delinsCAT	XP_011514055.1:n.1437-170_1437-168delinsCAT
XM_011515754.1:c.1437-170_1437-168delinsCAT	XP_011514056.1:n.1437-170_1437-168delinsCAT
NM_000492.4:c.1680-170_1680-168delinsCAT MANE Select	NP_000483.3:n.1680-170_1680-168delinsCAT