Canonical Allele Identifier: CA1737393642

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591800_117591801delinsGA , CM000669.2:g.117591800_117591801delinsGA	GRCh38
NC_000007.13:g.117231854_117231855delinsGA , CM000669.1:g.117231854_117231855delinsGA	GRCh37
NC_000007.12:g.117019090_117019091delinsGA	NCBI36
NG_016465.4:g.131017_131018delinsGA , LRG_663:g.131017_131018delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1767-134_1767-133delinsGA	ENSP00000497673.2:n.1767-134_1767-133delinsGA
ENST00000647978.2:c.*1481-134_*1481-133delinsGA	ENSP00000497658.1:n.*1481-134_*1481-133delinsGA
ENST00000649781.2:c.1584-134_1584-133delinsGA	ENSP00000497203.1:n.1584-134_1584-133delinsGA
ENST00000685018.2:c.1767-134_1767-133delinsGA	ENSP00000510194.2:n.1767-134_1767-133delinsGA
ENST00000687278.2:c.1767-134_1767-133delinsGA	ENSP00000509593.2:n.1767-134_1767-133delinsGA
ENST00000699585.1:c.1767-134_1767-133delinsGA	ENSP00000514456.1:n.1767-134_1767-133delinsGA
ENST00000699598.1:c.1767-134_1767-133delinsGA	ENSP00000514467.1:n.1767-134_1767-133delinsGA
ENST00000699599.1:c.1767-134_1767-133delinsGA	ENSP00000514468.1:n.1767-134_1767-133delinsGA
ENST00000699600.1:c.1767-134_1767-133delinsGA	ENSP00000514469.1:n.1767-134_1767-133delinsGA
ENST00000699601.1:c.*67-134_*67-133delinsGA	ENSP00000514470.1:n.*67-134_*67-133delinsGA
ENST00000699602.1:c.1767-134_1767-133delinsGA	ENSP00000514471.1:n.1767-134_1767-133delinsGA
ENST00000699604.1:c.*1591-134_*1591-133delinsGA	ENSP00000514472.1:n.*1591-134_*1591-133delinsGA
ENST00000699605.1:c.1341-134_1341-133delinsGA	ENSP00000514473.1:n.1341-134_1341-133delinsGA
ENST00000003084.11:c.1767-134_1767-133delinsGA MANE Select	ENSP00000003084.6:n.1767-134_1767-133delinsGA
ENST00000647978.1:c.*1481-134_*1481-133delinsGA	ENSP00000497658.1:n.*1481-134_*1481-133delinsGA
ENST00000648260.1:c.1402-11026_1402-11025delinsGA	ENSP00000497957.1:n.1402-11026_1402-11025delinsGA
ENST00000649406.1:c.1584-134_1584-133delinsGA	ENSP00000497965.1:n.1584-134_1584-133delinsGA
ENST00000649781.1:c.1584-134_1584-133delinsGA	ENSP00000497203.1:n.1584-134_1584-133delinsGA
ENST00000003084.10:c.1767-134_1767-133delinsGA	ENSP00000003084.6:n.1767-134_1767-133delinsGA
ENST00000426809.5:c.1677-134_1677-133delinsGA	ENSP00000389119.1:n.1677-134_1677-133delinsGA
NM_000492.3:c.1767-134_1767-133delinsGA , LRG_663t1:c.1767-134_1767-133delinsGA	NP_000483.3:n.1767-134_1767-133delinsGA
XM_011515751.1:c.1857-134_1857-133delinsGA	XP_011514053.1:n.1857-134_1857-133delinsGA
XM_011515752.1:c.1857-134_1857-133delinsGA	XP_011514054.1:n.1857-134_1857-133delinsGA
XM_011515753.1:c.1524-134_1524-133delinsGA	XP_011514055.1:n.1524-134_1524-133delinsGA
XM_011515754.1:c.1524-134_1524-133delinsGA	XP_011514056.1:n.1524-134_1524-133delinsGA
NM_000492.4:c.1767-134_1767-133delinsGA MANE Select	NP_000483.3:n.1767-134_1767-133delinsGA