Canonical Allele Identifier: CA1737340189

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509031_117509032delinsCA , CM000669.2:g.117509031_117509032delinsCA	GRCh38
NC_000007.13:g.117149085_117149086delinsCA , CM000669.1:g.117149085_117149086delinsCA	GRCh37
NC_000007.12:g.116936321_116936322delinsCA	NCBI36
NG_016465.4:g.48248_48249delinsCA , LRG_663:g.48248_48249delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.165-3_165-2delinsCA	ENSP00000497673.2:n.165-3_165-2delinsCA
ENST00000647978.2:c.*62-3_*62-2delinsCA	ENSP00000497658.1:n.*62-3_*62-2delinsCA
ENST00000649781.2:c.165-3_165-2delinsCA	ENSP00000497203.1:n.165-3_165-2delinsCA
ENST00000649850.2:c.*62-3_*62-2delinsCA	ENSP00000514457.1:n.*62-3_*62-2delinsCA
ENST00000685018.2:c.165-3_165-2delinsCA	ENSP00000510194.2:n.165-3_165-2delinsCA
ENST00000687278.2:c.165-3_165-2delinsCA	ENSP00000509593.2:n.165-3_165-2delinsCA
ENST00000699585.1:c.165-3_165-2delinsCA	ENSP00000514456.1:n.165-3_165-2delinsCA
ENST00000699596.1:c.165-3_165-2delinsCA	ENSP00000514465.1:n.165-3_165-2delinsCA
ENST00000699597.1:c.165-3_165-2delinsCA	ENSP00000514466.1:n.165-3_165-2delinsCA
ENST00000699598.1:c.165-3_165-2delinsCA	ENSP00000514467.1:n.165-3_165-2delinsCA
ENST00000699599.1:c.165-3_165-2delinsCA	ENSP00000514468.1:n.165-3_165-2delinsCA
ENST00000699600.1:c.165-3_165-2delinsCA	ENSP00000514469.1:n.165-3_165-2delinsCA
ENST00000699601.1:c.165-3_165-2delinsCA	ENSP00000514470.1:n.165-3_165-2delinsCA
ENST00000699602.1:c.165-3_165-2delinsCA	ENSP00000514471.1:n.165-3_165-2delinsCA
ENST00000699604.1:c.165-5_165-4delinsCA	ENSP00000514472.1:n.165-5_165-4delinsCA
ENST00000699605.1:c.-79-3_-79-2delinsCA	ENSP00000514473.1:n.-79-3_-79-2delinsCA
ENST00000446805.2:c.-79-3_-79-2delinsCA	ENSP00000417012.1:n.-79-3_-79-2delinsCA
ENST00000003084.11:c.165-3_165-2delinsCA MANE Select	ENSP00000003084.6:n.165-3_165-2delinsCA
ENST00000647639.1:n.249-3_249-2delinsCA
ENST00000647978.1:c.*62-3_*62-2delinsCA	ENSP00000497658.1:n.*62-3_*62-2delinsCA
ENST00000648260.1:c.165-3_165-2delinsCA	ENSP00000497957.1:n.165-3_165-2delinsCA
ENST00000649406.1:c.165-3_165-2delinsCA	ENSP00000497965.1:n.165-3_165-2delinsCA
ENST00000649781.1:c.165-3_165-2delinsCA	ENSP00000497203.1:n.165-3_165-2delinsCA
ENST00000649850.1:n.322-3_322-2delinsCA
ENST00000673785.1:c.-79-3_-79-2delinsCA	ENSP00000501235.1:n.-79-3_-79-2delinsCA
ENST00000003084.10:c.165-3_165-2delinsCA	ENSP00000003084.6:n.165-3_165-2delinsCA
ENST00000426809.5:c.165-3_165-2delinsCA	ENSP00000389119.1:n.165-3_165-2delinsCA
ENST00000446805.1:c.-79-3_-79-2delinsCA	ENSP00000417012.1:n.-79-3_-79-2delinsCA
NM_000492.3:c.165-3_165-2delinsCA , LRG_663t1:c.165-3_165-2delinsCA	NP_000483.3:n.165-3_165-2delinsCA
XM_011515751.1:c.255-3_255-2delinsCA	XP_011514053.1:n.255-3_255-2delinsCA
XM_011515752.1:c.255-3_255-2delinsCA	XP_011514054.1:n.255-3_255-2delinsCA
XM_011515753.1:c.-79-3_-79-2delinsCA	XP_011514055.1:n.-79-3_-79-2delinsCA
XM_011515754.1:c.-79-3_-79-2delinsCA	XP_011514056.1:n.-79-3_-79-2delinsCA
NM_000492.4:c.165-3_165-2delinsCA MANE Select	NP_000483.3:n.165-3_165-2delinsCA