Canonical Allele Identifier: CA1737334789

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117541987_117541989delinsAAT , CM000669.2:g.117541987_117541989delinsAAT	GRCh38
NC_000007.13:g.117182041_117182043delinsAAT , CM000669.1:g.117182041_117182043delinsAAT	GRCh37
NC_000007.12:g.116969277_116969279delinsAAT	NCBI36
NG_016465.4:g.81204_81206delinsAAT , LRG_663:g.81204_81206delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1117-29_1117-27delinsAAT	ENSP00000497673.2:n.1117-29_1117-27delinsAAT
ENST00000647978.2:c.*1014-29_*1014-27delinsAAT	ENSP00000497658.1:n.*1014-29_*1014-27delinsAAT
ENST00000649781.2:c.1117-29_1117-27delinsAAT	ENSP00000497203.1:n.1117-29_1117-27delinsAAT
ENST00000685018.2:c.1117-29_1117-27delinsAAT	ENSP00000510194.2:n.1117-29_1117-27delinsAAT
ENST00000687278.2:c.1117-29_1117-27delinsAAT	ENSP00000509593.2:n.1117-29_1117-27delinsAAT
ENST00000699585.1:c.1117-29_1117-27delinsAAT	ENSP00000514456.1:n.1117-29_1117-27delinsAAT
ENST00000699596.1:c.1117-29_1117-27delinsAAT	ENSP00000514465.1:n.1117-29_1117-27delinsAAT
ENST00000699597.1:c.1117-29_1117-27delinsAAT	ENSP00000514466.1:n.1117-29_1117-27delinsAAT
ENST00000699598.1:c.1117-29_1117-27delinsAAT	ENSP00000514467.1:n.1117-29_1117-27delinsAAT
ENST00000699599.1:c.1117-29_1117-27delinsAAT	ENSP00000514468.1:n.1117-29_1117-27delinsAAT
ENST00000699600.1:c.1117-29_1117-27delinsAAT	ENSP00000514469.1:n.1117-29_1117-27delinsAAT
ENST00000699601.1:c.1117-29_1117-27delinsAAT	ENSP00000514470.1:n.1117-29_1117-27delinsAAT
ENST00000699602.1:c.1117-29_1117-27delinsAAT	ENSP00000514471.1:n.1117-29_1117-27delinsAAT
ENST00000699604.1:c.*941-29_*941-27delinsAAT	ENSP00000514472.1:n.*941-29_*941-27delinsAAT
ENST00000699605.1:c.874-29_874-27delinsAAT	ENSP00000514473.1:n.874-29_874-27delinsAAT
ENST00000003084.11:c.1117-29_1117-27delinsAAT MANE Select	ENSP00000003084.6:n.1117-29_1117-27delinsAAT
ENST00000647978.1:c.*1014-29_*1014-27delinsAAT	ENSP00000497658.1:n.*1014-29_*1014-27delinsAAT
ENST00000648260.1:c.1117-29_1117-27delinsAAT	ENSP00000497957.1:n.1117-29_1117-27delinsAAT
ENST00000649406.1:c.1117-29_1117-27delinsAAT	ENSP00000497965.1:n.1117-29_1117-27delinsAAT
ENST00000649781.1:c.1117-29_1117-27delinsAAT	ENSP00000497203.1:n.1117-29_1117-27delinsAAT
ENST00000673785.1:c.874-29_874-27delinsAAT	ENSP00000501235.1:n.874-29_874-27delinsAAT
ENST00000003084.10:c.1117-29_1117-27delinsAAT	ENSP00000003084.6:n.1117-29_1117-27delinsAAT
ENST00000426809.5:c.1027-29_1027-27delinsAAT	ENSP00000389119.1:n.1027-29_1027-27delinsAAT
NM_000492.3:c.1117-29_1117-27delinsAAT , LRG_663t1:c.1117-29_1117-27delinsAAT	NP_000483.3:n.1117-29_1117-27delinsAAT
XM_011515751.1:c.1207-29_1207-27delinsAAT	XP_011514053.1:n.1207-29_1207-27delinsAAT
XM_011515752.1:c.1207-29_1207-27delinsAAT	XP_011514054.1:n.1207-29_1207-27delinsAAT
XM_011515753.1:c.874-29_874-27delinsAAT	XP_011514055.1:n.874-29_874-27delinsAAT
XM_011515754.1:c.874-29_874-27delinsAAT	XP_011514056.1:n.874-29_874-27delinsAAT
NM_000492.4:c.1117-29_1117-27delinsAAT MANE Select	NP_000483.3:n.1117-29_1117-27delinsAAT